Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 17:15239591 (forward strand) | View in location tab


with HGMD-PUBLIC CM031329, CM991059 ; PhenCode IPNMDB_364 (C/T), IPNMDB_9 (C/G)

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 36 HGVS names - click the plus to show

About this variant

This variant overlaps 16 transcripts and is associated with 4 phenotypes.

Variation displays