RAPH1 c.1906C>T ;(p.P636S)

Variant ID: 2-204306007-G-A

NM_213589.1(RAPH1):c.1906C>T;(p.P636S)

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:

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Frontiers In Cell And Developmental Biology
Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP
Publication Date: 2021

Variant appearance in text: RAPH1: 1906C>T
PubMed Link: 34692690
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
View BVdb publication page