Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variant

HGMD-PUBLIC CS117052

Most severe consequence
 
Splice acceptor variant
Evidence status

Clinical significance

Synonyms

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

HGVS names

This variant has 3 HGVS names - Show

About this variant

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

Variant displays