Original source

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

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

Chromosome 22:29661313 (forward strand) | View in location tab

Co-located

with COSMIC COSM22000 (C/T), COSM1578860 (C/T) ; HGMD-PUBLIC CD931032, CM930515

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_061_NF2_607379_0009, 14817

This variant has 27 HGVS names - click the plus to show

About this variant

This variant overlaps 13 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays