IDUA c.809T>G ;(p.I270S)

Variant ID: 4-995786-T-G

NM_000203.3(IDUA):c.809T>G;(p.I270S)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetics and genomic medicine in Tunisia.

Molecular Genetics & Genomic Medicine
Elloumi-Zghal, Houda H; Chaabouni Bouhamed, Habiba H
Publication Date: 2018-03

Variant appearance in text: IDUA: Ile270Ser
PubMed Link: 29663716
Variant Present in the following documents:
  • Main text
  • MGG3-6-134.pdf
View BVdb publication page


Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases
Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB
Publication Date: 2017-07-04

Variant appearance in text: IDUA: I270S
PubMed Link: 28676128
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_678.pdf
View BVdb publication page