SMN1 c.294_305del ;(p.C98_I101del)

Variant ID: 5-70238202-ATGTTCTGCCATT-A

NM_000344.3(SMN1):c.294_305del;(p.C98_I101del)

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:

Early Infantile Onset Non-5q Spinal Muscular Atrophies: A Diagnostic Odyssey.

Annals Of Indian Academy Of Neurology
Suthar, Renu R; Bhagwat, Chandana C; Paria, Pradip P; Aggarwal, Divya D; Kumar, Namita Ravi NR; Chatterjee, Debajyoti D; Saini, Arushi G AG; Angurana, Suresh Kumar SK; Sankhyan, Naveen N
Publication Date: 2021

Variant appearance in text: SMN1: 292_303del
PubMed Link: 35359517
Variant Present in the following documents:
  • AIAN-24-995.pdf
View BVdb publication page