chr10:89692991:A>G Detail (hg19) (PTEN)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:89,692,991-89,692,991 |
hg38 | chr10:87,933,234-87,933,234 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000314.6:c.475A>G | NP_000305.3:p.Arg159Gly |
NM_001304717.2:c.475A>G | NP_001291646.2:p.Arg159Gly | |
NM_001304718.1:c.475A>G | NP_001291647.1:p.Arg159Gly |
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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body of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-02-05 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-09-02 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2019-12-05 | criteria provided, single submitter | Cowden syndrome |
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Detail |
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2022-02-11 | criteria provided, single submitter | PTEN hamartoma tumor syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) AND not provided | ClinVar | Detail |
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) AND Cowden syndrome | ClinVar | Detail |
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) AND PTEN hamartoma tumor 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
- rs786202688 dbSNP
- Genome
- hg19
- Position
- chr10:89,692,991-89,692,991
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser