chr4:3006043:C>G Detail (hg19) (GRK4)

Information

Genome

Assembly Position
hg19 chr4:3,006,043-3,006,043
hg38 chr4:3,004,316-3,004,316 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001004056.1:c.329C>G NP_001004056.1:p.Ala110Gly
NM_005307.2:c.329C>G NP_005298.2:p.Ala110Gly
NM_182982.2:c.425C>G NP_892027.2:p.Ala142Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 137026 OMIM
HGNC 4543 HGNC
Ensembl ENSG00000125388 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 myocardial infarction We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L ... BeFree 22949529 Detail
<0.001 Cerebrovascular accident We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L ... BeFree 22949529 Detail
Annotation

Annotations

DescrptionSourceLinks
We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L (rs2960306), A142V (... DisGeNET Detail
We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L (rs2960306), A142V (... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1024323 dbSNP
Genome
hg19
Position
chr4:3,006,043-3,006,043
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser