Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 1:226885570 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032996

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.226885570C>T
ENST00000422240.6:c.389C>T
ENSP00000403737.2:p.Ser130Leu
ENST00000366782.5:c.488C>T
ENSP00000355746.1:p.Ser163Leu
ENST00000472139.2:c.-44C>T
ENST00000366783.7:c.389C>T
ENSP00000355747.3:p.Ser130Leu
ENST00000460775.5:c.-21-2521C>T
ENST00000626989.2:c.488C>T
ENSP00000486498.1:p.Ser163Leu

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 9 transcripts, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays