TTN c.1012G>T ;(p.G338C)

Variant ID: 2-179659882-C-A

NM_001267550.1(TTN):c.1012G>T;(p.G338C)

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:

The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.

Molecular Aspects Of Medicine
Zhao, Rongbao R; Aluri, Srinivas S; Goldman, I David ID
Publication Date: 2017-02

Variant appearance in text: TMD: G338C
PubMed Link: 27664775
Variant Present in the following documents:
  • Main text
View BVdb publication page