Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 10:89014221 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM991189, CM981928

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 16 HGVS names - click the plus to show

10:g.89014221A>T
ENST00000494410.5:c.*137A>T
ENST00000357339.6:c.716A>T
ENSP00000349896.2:p.Asp239Val
ENST00000352159.8:c.*96A>T
ENST00000355740.6:c.779A>T
ENSP00000347979.2:p.Asp260Val
ENST00000492756.5:c.*208A>T
ENST00000488877.5:c.*220A>T
ENST00000612663.4:c.*126A>T
ENST00000479522.5:c.*208A>T
ENST00000484444.5:c.*220A>T
ENST00000355279.2:c.*91A>T
LRG_134:g.28691A>T
LRG_134t1:c.779A>T
LRG_134p1:p.Asp260Val

About this variant

This variant overlaps 20 transcripts and is associated with 3 phenotypes.

Variant displays