NASP c.31G>A ;(p.V11I)

Variant ID: 1-46049849-G-A

NM_002482.3(NASP):c.31G>A;(p.V11I)

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:

Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing.

Clinical Case Reports
Naumova, Oxana Yu OY; Rychkov, Sergey Yu SY; Burenkova, Olga V OV; Solodunova, Maria Yu MY; Polyanskaya, Irina V IV; Arintcina, Irina A IA; Zhukova, Marina A MA; Ovchinnikova, Irina V IV; Zhukova, Olga V OV; Grigorenko, Elena L EL
Publication Date: 2020-12

Variant appearance in text: rs28365868
PubMed Link: 33363845
Variant Present in the following documents:
  • Main text
  • CCR3-8-2889.pdf
View BVdb publication page