Original source

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

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

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

Co-located

with HGMD-PUBLIC CS951426, CS951425, CS075157

Most severe consequence
 
Splice donor variant
Evidence status

Clinical significance

Synonyms

LSDB GH1_291+1G_C_040511

This variant has 16 HGVS names - click the plus to show

About this variant

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

Variant displays