Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 17:63918016 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CS951426, CS075157, CS951425

Most severe consequence
 
Splice donor variant
Evidence status

Clinical significance

Synonyms

LSDB GH1_291+1G_C_040511

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 14 transcripts, is associated with 1 phenotype and is mentioned in 6 citations.

Variant displays