SMN1 c.581T>C ;(p.L194P)

Variant ID: 5-70238651-T-C

NM_000344.3(SMN1):c.581T>C;(p.L194P)

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:

The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU.

Molecular Genetics And Metabolism Reports
Bik-Multanowski, Miroslaw M; Bik-Multanowska, Kinga K; Betka, Iwona I; Madetko-Talowska, Anna A
Publication Date: 2021-06

Variant appearance in text: SMA: L194P
PubMed Link: 33868932
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page