chr16:89985918:C>G Detail (hg19) (MC1R)

Information

Genome

Assembly Position
hg19 chr16:89,985,918-89,985,918
hg38 chr16:89,919,510-89,919,510 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002386.3:c.252C>G NP_002377.4:p.Asp84Glu
Ensemble ENST00000555427.1:c.252C>G ENST00000555427.1:p.Asp84Glu
ENST00000639847.1:c.252C>G ENST00000639847.1:p.Asp84Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 155555 OMIM
HGNC 6929 HGNC
Ensembl ENSG00000258839 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 melanoma We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; N... BeFree 24170137 Detail
0.003 Erythema Persons carrying MC1R homozygote variant alleles at R151C, R160W, D294H and D84E... BeFree 20129839 Detail
0.284 melanoma The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with me... BeFree 8894704 Detail
0.360 Melanoma, cutaneous malignant, susceptibility to, 5 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and... DisGeNET Detail
Persons carrying MC1R homozygote variant alleles at R151C, R160W, D294H and D84E were more likely to... DisGeNET Detail
The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. DisGeNET Detail
NA 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
-
Genome
hg19
Position
chr16:89,985,918-89,985,918
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8596
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120024
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.331666999933347E-6
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