Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome 22:29681477 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM961040

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 14814, 2009_August_001_059_NF2_607379_0006

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