chr16:89919510:C>A Detail (hg38) (MC1R)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:89,985,918-89,985,918 View the variant detail on this assembly version. |
| hg38 | chr16:89,919,510-89,919,510 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002386.3:c.252C>A | NP_002377.4:p.Asp84Glu |
| Ensemble | ENST00000555147.2:c.252C>A | ENST00000555147.2:p.Asp84Glu |
| ENST00000555427.1:c.252C>A | ENST00000555427.1: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 | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Benign
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | Melanoma, cutaneous malignant, susceptibility to, 5 |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2023-07-01 | criteria provided, conflicting interpretations | not provided |
germline
unknown
|
Detail |
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
| Descrption | Source | Links |
|---|---|---|
| NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) AND Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar | Detail |
| NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) AND not provided | ClinVar | Detail |
| 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
- -
- dbSNP
- rs1805006 dbSNP
- Genome
- hg38
- Position
- chr16:89,919,510-89,919,510
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- 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)
- 638
- Heterozygous Counts in All Race (ExAC)
- 634
- Homozygous Counts in All Race (ExAC)
- 2
- Allele Frequency in All Race (ExAC)
- 0.005315603545957475
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