Original source

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

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

Chromosome 1:226895521 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM023438

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 12 HGVS names - click the plus to show

1:g.226895521C>T
ENST00000422240.6:c.1286C>T
ENSP00000403737.2:p.Thr429Met
ENST00000366782.5:c.1388C>T
ENSP00000355746.1:p.Thr463Met
ENST00000472139.2:c.857C>T
ENSP00000427806.1:p.Thr286Met
ENST00000471728.1:n.547C>T
ENST00000366783.7:c.1289C>T
ENSP00000355747.3:p.Thr430Met
ENST00000626989.2:c.1388C>T
ENSP00000486498.1:p.Thr463Met

About this variant

This variant overlaps 10 transcripts and is associated with 3 phenotypes.

Variant displays