CELSR2 c.4951G>A ;(p.G1651S)

Variant ID: 1-109806349-G-A

NM_001408.2(CELSR2):c.4951G>A;(p.G1651S)

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:

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

Scientific Reports
Doi, Hiroshi H; Ushiyama, Masao M; Baba, Takashi T; Tani, Katsuko K; Shiina, Masaaki M; Ogata, Kazuhiro K; Miyatake, Satoko S; Fukuda-Yuzawa, Yoko Y; Tsuji, Shoji S; Nakashima, Mitsuko M; Tsurusaki, Yoshinori Y; Miyake, Noriko N; Saitsu, Hirotomo H; Ikeda, Shu-ichi S; Tanaka, Fumiaki F; Matsumoto, Naomichi N; Yoshida, Kunihiro K
Publication Date: 2014-11-24

Variant appearance in text: rs201428256
PubMed Link: 25417924
Variant Present in the following documents:
  • srep07132-s1.pdf
View BVdb publication page