This variation has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
C/A/G/T | Ancestral: C | Ambiguity code: N | MAF: < 0.01 (G)
Location

Chromosome 18:23538609 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012439, CM012438, CM981390

Most severe consequence
Evidence status

Clinical significance

This variation has 9 synonyms - click the plus to show

This variation has 21 HGVS names - click the plus to show

Variant allele A
18:g.23538609C>A
ENST00000591075.1:n.607G>T
ENST00000269228.8:c.2974G>T
ENSP00000269228.4:p.Gly992Trp
ENST00000591955.1:n.317G>T
ENST00000591051.1:c.2052G>T
ENSP00000467636.1:p.Gly685Trp

Variant allele T
18:g.23538609C>T
ENST00000591075.1:n.607G>A
ENST00000269228.8:c.2974G>A
ENSP00000269228.4:p.Gly992Arg
ENST00000591955.1:n.317G>A
ENST00000591051.1:c.2052G>A
ENSP00000467636.1:p.Gly685Arg

Variant allele G
18:g.23538609C>G
ENST00000591075.1:n.607G>C
ENST00000269228.8:c.2974G>C
ENSP00000269228.4:p.Gly992Arg
ENST00000591955.1:n.317G>C
ENST00000591051.1:c.2052G>C
ENSP00000467636.1:p.Gly685Arg

About this variant

This variant overlaps 30 transcripts, has 2504 individual genotypes, is associated with 6 phenotypes and is mentioned in 5 citations.

Variation displays