Original source

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

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

Chromosome 10:77993368 (forward strand) | View in location tab

Most severe consequence
 
Splice acceptor variant
Evidence status

Clinical significance

Synonyms

LSDB NM_007055.3:c.2617-1G>A

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

About this variant

This variant overlaps 2 transcripts and is associated with 2 phenotypes.

Variant displays