Original source

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

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

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

Co-located variants

COSMIC COSM23876 ; HGMD-PUBLIC CM941105

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_068_NF2_607379_0013, 14821

HGVS names

This variant has 54 HGVS names - Show

About this variant

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

Variant displays