MYBPHL c.805G>C ;(p.D269H)

Variant ID: 1-109838918-C-G

NM_001010985.2(MYBPHL):c.805G>C;(p.D269H)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs629001
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs629001
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Mapping gene and gene pathways associated with coronary artery disease: a CARDIoGRAM exome and multi-ancestry UK biobank analysis.

Scientific Reports
Hariharan, Praveen P; Dupuis, Josée J
Publication Date: 2021-08-12

Variant appearance in text: rs629001
PubMed Link: 34385509
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_95637.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs629001
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
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: rs629001
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci.

Nature Communications
Miller, Clint L CL; Pjanic, Milos M; Wang, Ting T; Nguyen, Trieu T; Cohain, Ariella A; Lee, Jonathan D JD; Perisic, Ljubica L; Hedin, Ulf U; Kundu, Ramendra K RK; Majmudar, Deshna D; Kim, Juyong B JB; Wang, Oliver O; Betsholtz, Christer C; Ruusalepp, Arno A; Franzén, Oscar O; Assimes, Themistocles L TL; Montgomery, Stephen B SB; Schadt, Eric E EE; Björkegren, Johan L M JLM; Quertermous, Thomas T
Publication Date: 2016-07-08

Variant appearance in text: rs629001
PubMed Link: 27386823
Variant Present in the following documents:
  • ncomms12092-s6.xlsx, sheet 1
View BVdb publication page



Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics
Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J
Publication Date: 2015

Variant appearance in text: rs629001
PubMed Link: 26110739
Variant Present in the following documents:
  • 1471-2164-16-S8-S4-S1.pdf
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs629001
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



From genotype to phenotype in human atherosclerosis--recent findings.

Current Opinion In Lipidology
Holdt, Lesca M LM; Teupser, Daniel D
Publication Date: 2013-10

Variant appearance in text: rs629001
PubMed Link: 24005217
Variant Present in the following documents:
  • colip-24-410.pdf
View BVdb publication page