MUC16 c.39683A>C ;(p.K13228T)

Variant ID: 19-9005723-T-G

NM_024690.2(MUC16):c.39683A>C;(p.K13228T)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility.

Asian Journal Of Andrology
Li, You-Zhu YZ; Li, Na N; Liu, Wen-Sheng WS; Sha, Yan-Wei YW; Wu, Rong-Feng RF; Tang, Ya-Ling YL; Zhu, Xing-Shen XS; Wei, Xiao-Li XL; Zhang, Xiao-Ya XY; Wang, Yi-Feng YF; Lu, Zhong-Xian ZX; Zhang, Fu-Xing FX
Publication Date: 2021-06-25

Variant appearance in text: MUC16: K13228T
PubMed Link: 34213489
Variant Present in the following documents:
  • AJA-24-67.pdf
View BVdb publication page


Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility.

Asian Journal Of Andrology
Li, You-Zhu YZ; Li, Na N; Liu, Wen-Sheng WS; Sha, Yan-Wei YW; Wu, Rong-Feng RF; Tang, Ya-Ling YL; Zhu, Xing-Shen XS; Wei, Xiao-Li XL; Zhang, Xiao-Ya XY; Wang, Yi-Feng YF; Lu, Zhong-Xian ZX; Zhang, Fu-Xing FX
Publication Date: 2022

Variant appearance in text: MUC16: K13228T
PubMed Link: 34213489
Variant Present in the following documents:
  • AJA-24-67.pdf
View BVdb publication page