This variation 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

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

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

Co-located

with HGMD-PUBLIC CM941156, CM941157

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 16821, 16824

This variation has 132 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 78 transcripts and is associated with 4 phenotypes.

Variation displays