Original source

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

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

Chromosome 22:29668405 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1717398 ; HGMD-PUBLIC CM941102

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 14818, 2009_August_001_062_NF2_607379_0010

HGVS names

This variant has 27 HGVS names - Show

About this variant

This variant overlaps 13 transcripts and is associated with 2 phenotypes.

Variant displays