SPTLC2 c.98G>T ;(p.S33I)

Variant ID: 14-78082825-C-A

NM_004863.3(SPTLC2):c.98G>T;(p.S33I)

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:

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
Publication Date: 2019-09

Variant appearance in text: SPTLC2: 98G>T
PubMed Link: 31397093
Variant Present in the following documents:
  • Main text
View BVdb publication page