PKD1 c.7438C>T ;(p.P2480S)

Variant ID: 16-2156450-G-A

NM_001009944.2(PKD1):c.7438C>T;(p.P2480S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders.

Human Reproduction (Oxford, England)
Oud, M S MS; Houston, B J BJ; Volozonoka, L L; Mastrorosa, F K FK; Holt, G S GS; Alobaidi, B K S BKS; deVries, P F PF; Astuti, G G; Ramos, L L; Mclachlan, R I RI; O'Bryan, M K MK; Veltman, J A JA; Chemes, H E HE; Sheth, H H
Publication Date: 2021-08-18

Variant appearance in text: PKD1: 7438C>T; Pro2480Ser
PubMed Link: 34089056
Variant Present in the following documents:
  • deab099_supplementary_tables3.pdf
View BVdb publication page