Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 1:55512222 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM054800

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 9 HGVS names - click the plus to show

1:g.55512222C>G
ENST00000543384.1:c.-77-5729C>G
ENST00000452118.2:c.426C>G
ENSP00000401598.2:p.Tyr142Ter
ENST00000302118.5:c.426C>G
ENSP00000303208.5:p.Tyr142Ter
LRG_275:g.12003C>G
LRG_275t1.1:c.426C>G
LRG_275p1.1:p.Tyr142Ter

Genotyping chips

This variation has assays on: Illumina_Cardio-Metabo_Chip, Illumina_ExomeChip

Variation displays