Original source

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

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

Chromosome 22:29681468 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950859

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 14813, 2009_August_001_058_NF2_607379_0005

HGVS names

This variant has 26 HGVS names - Show

About this variant

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

Variant displays