Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y | MAF: < 0.01 (C)
Location

Chromosome 1:169524538 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM980659

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

1:g.169524538T>C
ENST00000367796.3:c.1000A>G
ENSP00000356770.3:p.Arg334Gly
ENST00000546081.1:c.589A>G
ENSP00000439664.1:p.Arg197Gly
ENST00000367797.3:c.1000A>G
ENSP00000356771.3:p.Arg334Gly

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays