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 1:226885603 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951087

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 11 HGVS names - click the plus to show

1:g.226885603A>T
ENST00000422240.6:c.422A>T
ENSP00000403737.2:p.Asn141Ile
ENST00000366782.5:c.521A>T
ENSP00000355746.1:p.Asn174Ile
ENST00000472139.2:c.-11A>T
ENST00000366783.7:c.422A>T
ENSP00000355747.3:p.Asn141Ile
ENST00000460775.5:c.-21-2488A>T
ENST00000626989.2:c.521A>T
ENSP00000486498.1:p.Asn174Ile

About this variant

This variant overlaps 9 transcripts, is associated with 3 phenotypes and is mentioned in 4 citations.

Variant displays