Original source

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

G/A | Ancestral: G | Ambiguity code: R

Chromosome 11:67490911 (forward strand) | View in location tab


with HGMD-PUBLIC CM070646

Most severe consequence
Evidence status

Clinical significance


LSDB NM_003977.2:c.911G>A, 2010_April_001_004_AIP_605555_0008, 13284

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 and is associated with 2 phenotypes.

Variation displays