chr16:89986546:G>A Detail (hg19) (MC1R)

Information

Genome

Assembly Position
hg19 chr16:89,986,546-89,986,546
hg38 chr16:89,920,138-89,920,138 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002386.3:c.880G>A NP_002377.4:p.Asp294Asn
Ensemble ENST00000555147.2:c.880G>A ENST00000555147.2:p.Asp294Asn
ENST00000555427.1:c.880G>A ENST00000555427.1:p.Asp294Asn
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 Uncertain significance
Review star
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
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-03-29 criteria provided, single submitter Melanoma, cutaneous malignant, susceptibility to, 5 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Erythema Persons carrying MC1R homozygote variant alleles at R151C, R160W, D294H and D84E... BeFree 20129839 Detail
<0.001 pheochromocytoma When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D29... BeFree 19755124 Detail
0.284 melanoma MC1R gene variants have previously been associated with red hair and fair skin c... BeFree 11179997 Detail
0.005 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) Measures included past sun exposure by calendar and questionnaire, spectrophotom... BeFree 18711112 Detail
0.014 Malignant neoplasm of skin We studied the desensitization and internalization of three variant MC1R forms a... BeFree 17130136 Detail
<0.001 pheochromocytoma When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D29... BeFree 19755124 Detail
<0.001 pheochromocytoma When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D29... BeFree 19755124 Detail
0.284 melanoma Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associat... BeFree 19799798 Detail
0.014 Malignant neoplasm of skin MC1R gene sequencing identified in two NBCCS patients affected by multiple basal... BeFree 18539553 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002386.4(MC1R):c.880G>A (p.Asp294Asn) AND Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Detail
Persons carrying MC1R homozygote variant alleles at R151C, R160W, D294H and D84E were more likely to... DisGeNET Detail
When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants ass... DisGeNET Detail
MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ... DisGeNET Detail
Measures included past sun exposure by calendar and questionnaire, spectrophotometric skin type, and... DisGeNET Detail
We studied the desensitization and internalization of three variant MC1R forms associated with red h... DisGeNET Detail
When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants ass... DisGeNET Detail
When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants ass... DisGeNET Detail
Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in ... DisGeNET Detail
MC1R gene sequencing identified in two NBCCS patients affected by multiple basal cell carcinomas a f... 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
rs1805009 dbSNP
Genome
hg19
Position
chr16:89,986,546-89,986,546
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8622
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)
120516
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)
8.297653423611802E-6
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