F8 c.1894A>T ;(p.I632F)

Variant ID: X-154182176-T-A

NM_000132.3(F8):c.1894A>T;(p.I632F)

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:

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.

Orphanet Journal Of Rare Diseases
Mojbafan, Marzieh M; Bahmani, Reza R; Bagheri, Samira Dabbagh SD; Sharifi, Zohreh Z; Zeinali, Sirous S
Publication Date: 2020-01-14

Variant appearance in text: F8: 1894A>T
PubMed Link: 31937337
Variant Present in the following documents:
  • Main text
View BVdb publication page