SMN1 c.553C>T ;(p.P185S)

Variant ID: 5-70238623-C-T

NM_000344.3(SMN1):c.553C>T;(p.P185S)

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 genetics and genomic medicine in Qatar.

Molecular Genetics & Genomic Medicine
Al-Dewik, Nader N; Al-Mureikhi, Mariam M; Shahbeck, Noora N; Ali, Rehab R; Al-Mesaifri, Fatma F; Mahmoud, Laila L; Othman, Amna A; AlMulla, Mariam M; Sulaiman, Reem Al RA; Musa, Sara S; Abdoh, Ghassan G; El-Akouri, Karen K; Solomon, Benjamin D BD; Ben-Omran, Tawfeg T
Publication Date: 2018-09

Variant appearance in text: SMA: 553C>T
PubMed Link: 30264509
Variant Present in the following documents:
  • Main text
View BVdb publication page