chr9:21971200:C>G Detail (hg38) (CDKN2A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:21,971,199-21,971,199 View the variant detail on this assembly version. |
hg38 | chr9:21,971,200-21,971,200 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_058195.3:c.202G>C | NP_478102.2:p.Asp68His |
NM_000077.4:c.159G>C | NP_000068.1:p.Met53Ile | |
NM_001195132.1:c.159G>C | NP_001182061.1:p.Met53Ile |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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1998-08-01 | no assertion criteria provided | Melanoma, cutaneous malignant, susceptibility to, 2 |
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Detail |
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2022-11-21 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-30 | criteria provided, single submitter | familial melanoma |
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Detail |
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2022-04-20 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-09-05 | criteria provided, single submitter | melanoma and neural system tumor syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.121 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.360 | melanoma | The previously described Met53Ile CDKN2A mutation located in exon 2 was detected... | BeFree | 12459645 | Detail |
0.360 | melanoma | The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma ... | BeFree | 17171691 | Detail |
0.002 | Metastatic melanoma | The previously described Met53Ile CDKN2A mutation located in exon 2 was detected... | BeFree | 12459645 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) AND Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar | Detail |
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) AND Familial melanoma | ClinVar | Detail |
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) AND not provided | ClinVar | Detail |
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) AND Melanoma and neural system tumor syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
The previously described Met53Ile CDKN2A mutation located in exon 2 was detected in a female patient... | DisGeNET | Detail |
The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scotti... | DisGeNET | Detail |
The previously described Met53Ile CDKN2A mutation located in exon 2 was detected in a female patient... | 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
- rs104894095 dbSNP
- Genome
- hg38
- Position
- chr9:21,971,200-21,971,200
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 6042
- 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)
- 83652
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.390857361449816E-5
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