TTN c.7064C>T ;(p.P2355L)

Variant ID: 2-179638831-G-A

NM_001267550.1(TTN):c.7064C>T;(p.P2355L)

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:

Newborn screening for SCID identifies patients with ataxia telangiectasia.

Journal Of Clinical Immunology
Mallott, Jacob J; Kwan, Antonia A; Church, Joseph J; Gonzalez-Espinosa, Diana D; Lorey, Fred F; Tang, Ling Fung LF; Sunderam, Uma U; Rana, Sadhna S; Srinivasan, Rajgopal R; Brenner, Steven E SE; Puck, Jennifer J
Publication Date: 2013-04

Variant appearance in text: TTN: 7064C>T
PubMed Link: 23264026
Variant Present in the following documents:
  • Main text
View BVdb publication page