CMYA5 c.10074C>T ;(p.H3358=)

Variant ID: 5-79034662-C-T

NM_153610.3(CMYA5):c.10074C>T;(p.H3358=)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: CMYA5: 10074C>T; His3358=
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.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: CMYA5: H3358H
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
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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: CMYA5: H3358H
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: CMYA5: 10074C>T; H3358=
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families.

Genes
Fatima, Ambrin A; Abdullah, Uzma U; Farooq, Muhammad M; Mang, Yuan Y; Mehrjouy, Mana M MM; Asif, Maria M; Ali, Zafar Z; Tommerup, Niels N; Baig, Shahid M SM
Publication Date: 2021-11-26

Variant appearance in text: rs3828611
PubMed Link: 34946848
Variant Present in the following documents:
  • Main text
  • genes-12-01899.pdf
View BVdb publication page



The schizophrenia genetics knowledgebase: a comprehensive update of findings from candidate gene studies.

Translational Psychiatry
Liu, Chenxing C; Kanazawa, Tetsufumi T; Tian, Ye Y; Mohamed Saini, Suriati S; Mancuso, Serafino S; Mostaid, Md Shaki MS; Takahashi, Atsushi A; Zhang, Dai D; Zhang, Fuquan F; Yu, Hao H; Doo Shin, Hyoung H; Sub Cheong, Hyun H; Ikeda, Masashi M; Kubo, Michiaki M; Iwata, Nakao N; Woo, Sung-Il SI; Yue, Weihua W; Kamatani, Yoichiro Y; Shi, Yongyong Y; Li, Zhiqiang Z; Everall, Ian I; Pantelis, Christos C; Bousman, Chad C
Publication Date: 2019-08-27

Variant appearance in text: rs3828611
PubMed Link: 31455759
Variant Present in the following documents:
  • 41398_2019_532_MOESM16_ESM.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs3828611
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia.

Molecular Psychiatry
Chen, X X; Lee, G G; Maher, B S BS; Fanous, A H AH; Chen, J J; Zhao, Z Z; Guo, A A; van den Oord, E E; Sullivan, P F PF; Shi, J J; Levinson, D F DF; Gejman, P V PV; Sanders, A A; Duan, J J; Owen, M J MJ; Craddock, N J NJ; O'Donovan, M C MC; Blackman, J J; Lewis, D D; Kirov, G K GK; Qin, W W; Schwab, S S; Wildenauer, D D; Chowdari, K K; Nimgaonkar, V V; Straub, R E RE; Weinberger, D R DR; O'Neill, F A FA; Walsh, D D; Bronstein, M M; Darvasi, A A; Lencz, T T; Malhotra, A K AK; Rujescu, D D; Giegling, I I; Werge, T T; Hansen, T T; Ingason, A A; Nöethen, M M MM; Rietschel, M M; Cichon, S S; Djurovic, S S; Andreassen, O A OA; Cantor, R M RM; Ophoff, R R; Corvin, A A; Morris, D W DW; Gill, M M; Pato, C N CN; Pato, M T MT; Macedo, A A; Gurling, H M D HM; McQuillin, A A; Pimm, J J; Hultman, C C; Lichtenstein, P P; Sklar, P P; Purcell, S M SM; Scolnick, E E; St Clair, D D; Blackwood, D H R DH; Kendler, K S KS; , ; ,
Publication Date: 2011-11

Variant appearance in text: rs3828611
PubMed Link: 20838396
Variant Present in the following documents:
  • Main text
View BVdb publication page