This variant has been flagged

Variation has more than 3 different alleles

Original source

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

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

Chromosome 12:48130393 (forward strand) | View in location tab


with HGMD-PUBLIC CM941156, CM941157

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 16821, 16824

HGVS names

This variant has 132 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 78 transcripts and is associated with 3 phenotypes.

Variant displays