GAA c.1760T>C ;(p.L587P)

Variant ID: 17-78086382-T-C

NM_000152.3(GAA):c.1760T>C;(p.L587P)

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:

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Frontiers In Neurology
Chakravorty, Samya S; Nallamilli, Babi Ramesh Reddy BRR; Khadilkar, Satish Vasant SV; Singla, Madhu Bala MB; Bhutada, Ashish A; Dastur, Rashna R; Gaitonde, Pradnya Satish PS; Rufibach, Laura E LE; Gloster, Logan L; Hegde, Madhuri M
Publication Date: 2020

Variant appearance in text: GAA: 1760T>C
PubMed Link: 33250842
Variant Present in the following documents:
  • fneur-11-559327.pdf
View BVdb publication page