Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 16:88810550 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM910042

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_008_APRT_102600_0004, NM_000485.2:c.194A>T

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays