chr12:112915455:T>C Detail (hg19) (PTPN11)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:112,915,455-112,915,455 |
hg38 | chr12:112,477,651-112,477,651 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002834.3:c.854T>C | NP_002825.3:p.Phe285Ser |
NM_080601.1:c.854T>C | NP_542168.1:p.Phe285Ser | |
NM_001330437.1:c.854T>C | NP_001317366.1:p.Phe285Ser |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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noonan syndrome |
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MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University | ||||
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noonan syndrome |
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MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-06-22 | criteria provided, multiple submitters, no conflicts | Noonan syndrome 1 |
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Detail |
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2019-03-27 | criteria provided, multiple submitters, no conflicts | Noonan syndrome |
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Detail |
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2022-09-23 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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no assertion criteria provided | Early T cell progenitor acute lymphoblastic leukemia |
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Detail | |
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2023-12-14 | criteria provided, multiple submitters, no conflicts | RASopathy |
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Detail |
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2020-04-23 | criteria provided, single submitter | Non-immune hydrops fetalis |
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Detail |
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2021-01-07 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
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Detail |
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2023-06-11 | criteria provided, multiple submitters, no conflicts | PTPN11-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Turner Syndrome, Male | NA | CLINVAR | Detail | |
0.694 | Noonan syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) AND Noonan syndrome 1 | ClinVar | Detail |
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) AND Noonan syndrome | ClinVar | Detail |
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) AND not provided | ClinVar | Detail |
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) AND Early T cell progenitor acute lymphoblastic leukemia | ClinVar | Detail |
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) AND RASopathy | ClinVar | Detail |
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) AND Non-immune hydrops fetalis | ClinVar | Detail |
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) AND PTPN11-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs121918463 dbSNP
- Genome
- hg19
- Position
- chr12:112,915,455-112,915,455
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser