TET1 c.5996A>C ;(p.H1999P)

Variant ID: 10-70451156-A-C

NM_030625.2(TET1):c.5996A>C;(p.H1999P)

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:

A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.

Investigative Ophthalmology & Visual Science
Wang, Feng F; Wang, Yandong Y; Zhang, Bin B; Zhao, Li L; Lyubasyuk, Vera V; Wang, Keqing K; Xu, Mingchu M; Li, Yumei Y; Wu, Frances F; Wen, Cindy C; Bernstein, Paul S PS; Lin, Danni D; Zhu, Susanna S; Wang, Hui H; Zhang, Kang K; Chen, Rui R
Publication Date: 2014-10-14

Variant appearance in text: TET1: 5996A>C; H1999P
PubMed Link: 25316723
Variant Present in the following documents:
  • Main text
View BVdb publication page