CALR c.207C>T ;(p.S69=)

Variant ID: 19-13050255-C-T

NM_004343.3(CALR):c.207C>T;(p.S69=)

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:

A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).

Plos One
Rani, Deepa Selvi DS; Dhandapany, Perundurai S PS; Nallari, Pratibha P; Narasimhan, Calambur C; Thangaraj, Kumarasamy K
Publication Date: 2014

Variant appearance in text: CRT: S69S
PubMed Link: 24992688
Variant Present in the following documents:
  • pone.0101451.pdf
View BVdb publication page