Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S|MAF: < 0.01 (G)
Location

Chromosome 1:55046549 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM054800

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

1:g.55046549C>G
ENST00000302118.5:c.426C>G
ENSP00000303208.5:p.Tyr142Ter
LRG_275:g.12003C>G
LRG_275t1:c.426C>G
LRG_275p1:p.Tyr142Ter

Genotyping chips

This variant has assays on: Illumina_Cardio-Metabo_Chip, HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, has 2505 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays