SI c.505A>G ;(p.R169G)

Variant ID: 3-164785258-T-C

NM_001041.3(SI):c.505A>G;(p.R169G)

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:

NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Diagnostics (Basel, Switzerland)
Esposito, Maria Valeria MV; Comegna, Marika M; Cernera, Gustavo G; Gelzo, Monica M; Paparo, Lorella L; Berni Canani, Roberto R; Castaldo, Giuseppe G
Publication Date: 2021-02-08

Variant appearance in text: SI: 505A>G
PubMed Link: 33567694
Variant Present in the following documents:
  • Main text
View BVdb publication page