This variant has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N

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
Missense variant
Evidence status

Clinical significance

This variant has 6 synonyms - click the plus to show

This variant has 54 HGVS names - click the plus to show

About this variant

This variant overlaps 24 transcripts and is associated with 4 phenotypes.

Variant displays