chr12:112450394:G>C Detail (hg38) (PTPN11)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:112,888,198-112,888,198 View the variant detail on this assembly version. |
hg38 | chr12:112,450,394-112,450,394 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002834.3:c.214G>C | NP_002825.3:p.Ala72Pro |
NM_080601.1:c.214G>C | NP_542168.1:p.Ala72Pro | |
NM_001330437.1:c.214G>C | NP_001317366.1:p.Ala72Pro |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-11-25 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2012-09-28 | criteria provided, single submitter | Noonan syndrome |
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Detail |
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2022-07-01 | criteria provided, single submitter | RASopathy |
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Detail |
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2023-01-26 | criteria provided, single submitter | Noonan syndrome with multiple lentigines |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.694 | Noonan syndrome | Wild type SHP-2 and four disease-associated mutants recurring in hematologic mal... | BeFree | 17177198 | Detail |
0.002 | Hematologic Neoplasms | Wild type SHP-2 and four disease-associated mutants recurring in hematologic mal... | BeFree | 17177198 | Detail |
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.214G>C (p.Ala72Pro) AND not provided | ClinVar | Detail |
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) AND Noonan syndrome | ClinVar | Detail |
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) AND RASopathy | ClinVar | Detail |
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) AND Noonan syndrome with multiple lentigines | ClinVar | Detail |
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys ... | DisGeNET | Detail |
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys ... | DisGeNET | Detail |
NA | DisGeNET | 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
- rs121918453 dbSNP
- Genome
- hg38
- Position
- chr12:112,450,394-112,450,394
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
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