HEXA c.615G>C ;(p.L205=)

Variant ID: 15-72643531-C-G

NM_000520.4(HEXA):c.615G>C;(p.L205=)

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:

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Frontiers In Genetics
Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H
Publication Date: 2022

Variant appearance in text: HEXA: 615G>C
PubMed Link: 35910219
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 7
View BVdb publication page