SMN1 c.87T>C ;(p.D29=)

Variant ID: 5-70234671-T-C

NM_000344.3(SMN1):c.87T>C;(p.D29=)

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:

Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy.

Orphanet Journal Of Rare Diseases
Lusakowska, Anna A; Jedrzejowska, Maria M; Kaminska, Anna A; Janiszewska, Katarzyna K; Grochowski, Przemysław P; Zimowski, Janusz J; Sierdzinski, Janusz J; Kostera-Pruszczyk, Anna A
Publication Date: 2021-03-24

Variant appearance in text: SMA: D29D
PubMed Link: 33761963
Variant Present in the following documents:
  • Main text
View BVdb publication page