Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 12:57764147 (forward strand) | View in location tab


with HGMD-PUBLIC CM980512

Most severe consequence
Evidence status

Clinical significance

This variation has 6 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 13 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variation displays