chr9:21971037:C>A Detail (hg38) (CDKN2A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:21,971,036-21,971,036 View the variant detail on this assembly version. |
hg38 | chr9:21,971,037-21,971,037 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000077.4:c.322G>T | NP_000068.1:p.Asp108Tyr |
NM_001195132.1:c.322G>T | NP_001182061.1:p.Asp108Tyr | |
NM_058195.3:c.365G>T | NP_478102.2:p.Arg122Leu |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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 |
---|---|---|---|---|---|
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2023-12-07 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2015-07-14 | no assertion criteria provided | Neoplasm |
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Detail |
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2020-04-09 | criteria provided, single submitter | familial melanoma |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.121 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr) AND Neoplasm | ClinVar | Detail |
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr) AND Familial melanoma | 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
- rs121913381 dbSNP
- Genome
- hg38
- Position
- chr9:21,971,037-21,971,037
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
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