SMN1 c.735dup ;(p.P246Tfs*10)

Variant ID: 5-70241903-C-CA

NM_000344.3(SMN1):c.735dup;(p.P246Tfs*10)

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:

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.

International Journal Of Molecular Sciences
Butchbach, Matthew E R MER
Publication Date: 2021-07-23

Variant appearance in text: SMA: 735_736insA
PubMed Link: 34360669
Variant Present in the following documents:
  • Main text
  • ijms-22-07896.pdf
View BVdb publication page