SI c.2624T>C ;(p.F875S)

Variant ID: 3-164750422-A-G

NM_001041.3(SI):c.2624T>C;(p.F875S)

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:

Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.

Nutrients
Husein, Diab M DM; Wanes, Dalanda D; Marten, Lara M LM; Zimmer, Klaus-Peter KP; Naim, Hassan Y HY
Publication Date: 2019-09-25

Variant appearance in text: SI: F875S
PubMed Link: 31557950
Variant Present in the following documents:
  • Main text
View BVdb publication page