IDUA c.590G>C ;(p.G197A)

Variant ID: 4-995467-G-C

NM_000203.3(IDUA):c.590G>C;(p.G197A)

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:

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: G197A; rs770087890
PubMed Link: 28676128
Variant Present in the following documents:
  • Main text
View BVdb publication page