SMN1 c.118_120delinsTTT ;(p.I40F)

Variant ID: 5-70234702-ATA-TTT

NM_000344.3(SMN1):c.118_120delinsTTT;(p.I40F)

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:

Abdominal Muscles and Metabolic Syndrome According to Patient Sex: A Retrospective Cross-Sectional Study.

Healthcare (Basel, Switzerland)
Lee, Tae Young TY; Jeon, Young-Jee YJ; Kim, Chung Reen CR; Kang, Byung Ju BJ; Park, Gyung-Min GM
Publication Date: 2021-09-10

Variant appearance in text: SMA: I40f
PubMed Link: 34574971
Variant Present in the following documents:
  • Main text
  • healthcare-09-01197.pdf
View BVdb publication page