Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 17:80385145 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM110689

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB SCV000056673

HGVS names

This variant has 22 HGVS names - Hide

Variant allele A
17:g.80385145G>A
ENST00000427003.7:n.543G>A
ENST00000582970.5:c.14429G>A
ENSP00000464087.1:p.Arg4810Lys
ENST00000572151.1:n.190+29784C>T
ENST00000575034.5:n.190+29784C>T
ENST00000508628.6:c.14576G>A
ENSP00000425956.2:p.Arg4859Lys
ENST00000411702.7:n.3478G>A
ENST00000573394.1:n.241-3860C>T
ENST00000570776.1:n.273G>A

Variant allele C
17:g.80385145G>C
ENST00000427003.7:n.543G>C
ENST00000582970.5:c.14429G>C
ENSP00000464087.1:p.Arg4810Thr
ENST00000572151.1:n.190+29784C>G
ENST00000575034.5:n.190+29784C>G
ENST00000508628.6:c.14576G>C
ENSP00000425956.2:p.Arg4859Thr
ENST00000411702.7:n.3478G>C
ENST00000573394.1:n.241-3860C>G
ENST00000570776.1:n.273G>C

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 24 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays