chr16:89919532:G>C Detail (hg38) (MC1R)

Information

Genome

Assembly Position
hg19 chr16:89,985,940-89,985,940 View the variant detail on this assembly version.
hg38 chr16:89,919,532-89,919,532

HGVS

Type Transcript Protein
RefSeq NM_002386.3:c.274G>C NP_002377.4:p.Val92Leu
Ensemble ENST00000555147.2:c.274G>C ENST00000555147.2:p.Val92Leu
ENST00000555427.1:c.274G>C ENST00000555427.1:p.Val92Leu
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 tgv397385634 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
0.284 melanoma Furthermore, a non-significant tendency towards an association between melanoma ... BeFree 22621339 Detail
<0.001 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) Carriage of the G allele was higher in vitiligo patients [P = 0.17, OR (95% CI) ... BeFree 12859622 Detail
0.126 vitiligo Carriage of the G allele was higher in vitiligo patients [P = 0.17, OR (95% CI) ... BeFree 12859622 Detail
<0.001 Lentigo Effect of Val92Met and Arg163Gln variants of the MC1R gene on freckles and solar... BeFree 17371441 Detail
0.005 Experimental Organism Basal Cell Carcinoma The melanocyte stimulating hormone receptor polymorphism: association of the V92... BeFree 10340440 Detail
Annotation

Annotations

DescrptionSourceLinks
Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R varian... DisGeNET Detail
Carriage of the G allele was higher in vitiligo patients [P = 0.17, OR (95% CI) = 1.50 (0.83-2.72)],... DisGeNET Detail
Carriage of the G allele was higher in vitiligo patients [P = 0.17, OR (95% CI) = 1.50 (0.83-2.72)],... DisGeNET Detail
Effect of Val92Met and Arg163Gln variants of the MC1R gene on freckles and solar lentigines in Japan... DisGeNET Detail
The melanocyte stimulating hormone receptor polymorphism: association of the V92M and A294H alleles ... 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
hg38
Position
chr16:89,919,532-89,919,532
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8536
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)
119838
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)
8.344598541364175E-6
Genome browser