Original source

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

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

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

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance


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