SI c.89T>C ;(p.V30A)

Variant ID: 3-164793712-A-G

NM_001041.3(SI):c.89T>C;(p.V30A)

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:

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Human Mutation
Mendes, Marisa I MI; Smith, Desirée Ec DE; Pop, Ana A; Lennertz, Pascal P; Fernandez Ojeda, Matilde R MR; Kanhai, Warsha A WA; van Dooren, Silvy Jm SJ; Anikster, Yair Y; Barić, Ivo I; Boelen, Caroline C; Campistol, Jaime J; de Boer, Lonneke L; Kariminejad, Ariana A; Kayserili, Hulya H; Roubertie, Agathe A; Verbruggen, Krijn T KT; Vianey-Saban, Christine C; Williams, Monique M; Salomons, Gajja S GS
Publication Date: 2017-05

Variant appearance in text: SI: 89T>C
PubMed Link: 28101991
Variant Present in the following documents:
  • Main text
  • HUMU-38-524.pdf
View BVdb publication page