Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.42 (T)
Location

Chromosome 9:104858586 (forward strand) | View in location tab

Co-located

with COSMIC COSM3736474 (C/T), COSM150660 (C/T) ; HGMD-PUBLIC CM030397

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 5 HGVS names - click the plus to show

9:g.104858586C>T
ENST00000374736.6:c.656G>A
ENSP00000363868.3:p.Arg219Lys
ENST00000423487.5:c.656G>A
ENSP00000416623.2:p.Arg219Lys

This variation has assays on 11 chips - click the plus to show

About this variant

This variant overlaps 4 transcripts, has 2611 individual genotypes, is associated with 2 phenotypes and is mentioned in 48 citations.

Variation displays