chr16:89986117:C>G Detail (hg19) (MC1R)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:89,986,117-89,986,117 |
| hg38 | chr16:89,919,709-89,919,709 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002386.3:c.451C>G | NP_002377.4:p.Arg151Gly |
| Ensemble | ENST00000555427.1:c.451C>G | ENST00000555427.1:p.Arg151Gly |
| ENST00000639847.1:c.451C>G | ENST00000639847.1:p.Arg151Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) | Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G-34T) an... | BeFree | 18025365 | Detail |
| 0.005 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) | Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G-34T) an... | BeFree | 18025365 | Detail |
| <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 |
| <0.001 | pheochromocytoma | When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D29... | BeFree | 19755124 | Detail |
| <0.001 | Experimental Organism Basal Cell Carcinoma | A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution... | BeFree | 21700618 | Detail |
| 0.284 | melanoma | MC1R gene variants have previously been associated with red hair and fair skin c... | BeFree | 11179997 | Detail |
| 0.122 | Sunburn | Genome-wide association studies identify several new loci associated with pigmen... | GWASCAT | 23548203 | Detail |
| 0.125 | Freckles | Genetic determinants of hair, eye and skin pigmentation in Europeans. | GWASCAT | 17952075 | Detail |
| 0.126 | skin carcinoma | Genome-wide association studies identify several new loci associated with pigmen... | GWASCAT | 23548203 | 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 |
| 0.005 | Experimental Organism Basal Cell Carcinoma | A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution... | BeFree | 21700618 | Detail |
| 0.005 | Experimental Organism Basal Cell Carcinoma | The p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier med... | BeFree | 25159867 | Detail |
| 0.120 | INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder) | NA | CLINVAR | Detail | |
| 0.284 | melanoma | Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro... | BeFree | 17492760 | Detail |
| <0.001 | pheochromocytoma | When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D29... | BeFree | 19755124 | Detail |
| 0.257 | basal cell carcinoma | [A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitutio... | GAD | 21700618 | Detail |
| 0.257 | basal cell carcinoma | A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution... | GWASCAT | 21700618 | Detail |
| 0.284 | melanoma | Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associat... | BeFree | 19799798 | Detail |
| 0.125 | Freckles | [Genetic determinants of hair, eye and skin pigmentation in Europeans.] | GAD | 17952075 | Detail |
| 0.284 | melanoma | Furthermore, a non-significant tendency towards an association between melanoma ... | BeFree | 22621339 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G-34T) and homozygosity for a... | DisGeNET | Detail |
| Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G-34T) and homozygosity for a... | DisGeNET | 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 |
| When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants ass... | DisGeNET | Detail |
| A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well... | DisGeNET | Detail |
| MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ... | DisGeNET | Detail |
| Genome-wide association studies identify several new loci associated with pigmentation traits and sk... | DisGeNET | Detail |
| Genetic determinants of hair, eye and skin pigmentation in Europeans. | DisGeNET | Detail |
| Genome-wide association studies identify several new loci associated with pigmentation traits and sk... | 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 |
| A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well... | DisGeNET | Detail |
| The p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier median age of onset of ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as ... | DisGeNET | Detail |
| When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants ass... | DisGeNET | Detail |
| [A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously wel... | DisGeNET | Detail |
| A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well... | DisGeNET | Detail |
| Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in ... | DisGeNET | Detail |
| [Genetic determinants of hair, eye and skin pigmentation in Europeans.] | DisGeNET | Detail |
| Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R varian... | 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
- rs1805007 dbSNP
- Genome
- hg19
- Position
- chr16:89,986,117-89,986,117
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
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