HPS5 c.1511-4T>G

Variant ID: 11-18317673-A-C

NM_181507.1(HPS5):c.1511-4T>G

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:

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Npj Genomic Medicine
Sakaguchi, Narumi N; Suyama, Mikita M
Publication Date: 2022-03-18

Variant appearance in text: rs750948186
PubMed Link: 35304488
Variant Present in the following documents:
  • 41525_2022_294_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page