MYH9 c.612+123G>T

Variant ID: 22-36722490-C-A

NM_002473.4(MYH9):c.612+123G>T

This variant was identified in 10 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: MYH9: 612+123G>T; rs8136069
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs8136069
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs8136069
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: MYH9: 612+123G>T; rs8136069
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: MYH9: 612+123G>T; rs8136069
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs8136069
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs8136069
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis.

Genes And Immunity
Lin, C P CP; Adrianto, I I; Lessard, C J CJ; Kelly, J A JA; Kaufman, K M KM; Guthridge, J M JM; Freedman, B I BI; Anaya, J-M JM; Alarcón-Riquelme, M E ME; , ; Pons-Estel, B A BA; Martin, J J; Glenn, S S; Adler, A A; Bae, S-C SC; Park, S-Y SY; Bang, S-Y SY; Song, Y-W YW; Boackle, S A SA; Brown, E E EE; Edberg, J C JC; Alarcón, G S GS; Petri, M A MA; Criswell, L A LA; Ramsey-Goldman, R R; Reveille, J D JD; Vila, L M LM; Gilkeson, G S GS; Kamen, D L DL; Ziegler, J J; Jacob, C O CO; Rasmussen, A A; James, J A JA; Kimberly, R P RP; Merrill, J T JT; Niewold, T B TB; Scofield, R H RH; Stevens, A M AM; Tsao, B P BP; Vyse, T J TJ; Langefeld, C D CD; Moser, K L KL; Harley, J B JB; Gaffney, P M PM; Montgomery, C G CG
Publication Date: 2012-04

Variant appearance in text: rs8136069
PubMed Link: 22189356
Variant Present in the following documents:
  • Main text
View BVdb publication page



"Replicated" genome wide association for dependence on illegal substances: genomic regions identified by overlapping clusters of nominally positive SNPs.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Drgon, Tomas T; Johnson, Catherine A CA; Nino, Michelle M; Drgonova, Jana J; Walther, Donna M DM; Uhl, George R GR
Publication Date: 2011-03

Variant appearance in text: rs8136069
PubMed Link: 21302341
Variant Present in the following documents:
  • Main text
View BVdb publication page



The association of the MYH9 gene and kidney outcomes in American Indians: the Strong Heart Family Study.

Human Genetics
Franceschini, Nora N; Voruganti, V Saroja VS; Haack, Karin K; Almasy, Laura L; Laston, Sandy S; Goring, Harald H H HH; Umans, Jason G JG; Lee, Elisa T ET; Best, Lyle G LG; Fabsitz, Richard R RR; MacCluer, Jean W JW; Howard, Barbara V BV; North, Kari E KE; Cole, Shelley A SA
Publication Date: 2010-03

Variant appearance in text: rs8136069
PubMed Link: 19921264
Variant Present in the following documents:
  • Main text
View BVdb publication page