chr9:21970901:C>T Detail (hg19) (CDKN2A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:21,970,901-21,970,901 |
hg38 | chr9:21,970,902-21,970,902 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_058195.3:c.*101G>A | |
NM_001195132.1:c.457G>A | NP_001182061.1:p.Glu153Lys | |
NM_000077.4:c.457G>A | NP_000068.1:p.Asp153Asn |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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stomach, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-12-02 | criteria provided, single submitter | familial melanoma |
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Detail |
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2023-05-23 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.145 | Hereditary Melanoma | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000077.5(CDKN2A):c.457G>A (p.Asp153Asn) AND Familial melanoma | ClinVar | Detail |
NM_000077.5(CDKN2A):c.457G>A (p.Asp153Asn) AND Hereditary cancer-predisposing syndrome | ClinVar | 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
- rs45476696 dbSNP
- Genome
- hg19
- Position
- chr9:21,970,901-21,970,901
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser