Original source

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

HGMD-PUBLIC CM032996

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 11 HGVS names - Hide

1:g.226885570C>T
ENST00000422240.6:c.389C>T
ENSP00000403737.2:p.Ser130Leu
ENST00000366782.5:c.488C>T
ENSP00000355746.1:p.Ser163Leu
ENST00000366783.7:c.389C>T
ENSP00000355747.3:p.Ser130Leu
ENST00000460775.5:c.-21-2521C>T
ENST00000472139.2:c.-44C>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, is associated with 5 phenotypes and is mentioned in 1 citation.

Variant displays