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 22:29671905 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930517

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 14809, 2009_August_001_057_NF2_607379_0001

HGVS names

This variant has 25 HGVS names - Show

About this variant

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

Variant displays