Original source

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

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

Chromosome 1:17027802 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM056695

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 12 HGVS names - click the plus to show

1:g.17027802A>G
ENST00000475506.1:n.404T>C
ENST00000491274.4:c.445T>C
ENSP00000480482.1:p.Ser149Pro
ENST00000485515.4:n.421T>C
ENST00000375499.6:c.487T>C
ENSP00000364649.3:p.Ser163Pro
ENST00000463045.2:c.316T>C
ENSP00000481376.1:p.Ser106Pro
LRG_316:g.31369T>C
LRG_316t1:c.487T>C
LRG_316p1:p.Ser163Pro

This variation has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 10 transcripts, has 2528 individual genotypes, is associated with 6 phenotypes and is mentioned in 6 citations.

Variation displays