Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 2:26495075 (forward strand) | View in location tab

Most severe consequence
 
Splice acceptor variant
Evidence status

Clinical significance

Synonyms

LSDB DFNB9_24

This variant has 3 HGVS names - click the plus to show

2:g.26495075T>C
ENST00000403946.7:c.766-2A>G
ENST00000272371.6:c.766-2A>G

About this variant

This variant overlaps 2 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays