Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 1:173914743 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM860004

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 6 HGVS names - click the plus to show

1:g.173914743G>A
ENST00000494024.1:n.444C>T
ENST00000367698.3:c.218C>T
ENSP00000356671.3:p.Pro73Leu
ENST00000617423.3:c.218C>T
ENSP00000478688.1:p.Pro73Leu

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, has 2504 individual genotypes and is associated with 3 phenotypes.

Variation displays