Original source

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

G/A/T|Ancestral: G|Ambiguity code: D

Chromosome 15:90803721 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CS073439 ; PhenCode BLMbase_D0004:g.87317G>A (G/A)

Most severe consequence
Splice donor variant
Evidence status

Clinical significance


LSDB NM_000057.2:c.3558+1G>A

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 12 transcripts and is associated with 1 phenotype.

Variant displays