SMN1 c.397_399delinsTGT ;(p.R133C)

Variant ID: 5-70238308-AGA-TGT

NM_000344.3(SMN1):c.397_399delinsTGT;(p.R133C)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications.

Autism Research And Treatment
Guerra, Daniel J DJ
Publication Date: 2011

Variant appearance in text: SMA: R133C
PubMed Link: 22937247
Variant Present in the following documents:
  • Main text
  • AURT2011-398636.pdf
View BVdb publication page


Alterations in the Smad pathway in human cancers.

Frontiers In Bioscience (Landmark Edition)
Samanta, Debangshu D; Datta, Pran K PK
Publication Date: 2012-01-01

Variant appearance in text: SMA: R133C
PubMed Link: 22201803
Variant Present in the following documents:
  • Main text
View BVdb publication page