Original source

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

G/A/T | Ancestral: G | Ambiguity code: D | MAF: < 0.01 (A)

Chromosome 22:29674882 (forward strand) | View in location tab


with COSMIC COSM23876 (G/A) ; HGMD-PUBLIC CM941105

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 2009_August_001_068_NF2_607379_0013, 14821

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

About this variant

This variant overlaps 26 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays