NCAN c.2787T>A ;(p.P929=)

Variant ID: 19-19339216-T-A

NM_004386.2(NCAN):c.2787T>A;(p.P929=)

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:

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One
Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y
Publication Date: 2014

Variant appearance in text: NCAN: P929P
PubMed Link: 24637876
Variant Present in the following documents:
  • pone.0091598.s005.pdf
View BVdb publication page