Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 1:169555300 (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 5 HGVS names - click the plus to show

1:g.169555300T>C
ENST00000367796.3:c.1000A>G
ENSP00000356770.3:p.Arg334Gly
ENST00000367797.5:c.1000A>G
ENSP00000356771.3:p.Arg334Gly

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays