chr12:112450352:A>C Detail (hg38) (PTPN11)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:112,888,156-112,888,156 View the variant detail on this assembly version. |
hg38 | chr12:112,450,352-112,450,352 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002834.3:c.172A>C | NP_002825.3:p.Asn58His |
NM_080601.1:c.172A>C | NP_542168.1:p.Asn58His | |
NM_001330437.1:c.172A>C | NP_001317366.1:p.Asn58His |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2022-03-25 | criteria provided, multiple submitters, no conflicts | Noonan syndrome |
![]() |
Detail |
![]() |
2023-10-04 | criteria provided, multiple submitters, no conflicts | not provided |
![]() ![]() |
Detail |
![]() |
2022-07-09 | criteria provided, multiple submitters, no conflicts | RASopathy |
![]() |
Detail |
![]() |
2020-06-11 | criteria provided, single submitter | Noonan syndrome 1 |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Turner Syndrome, Male | NA | CLINVAR | Detail | |
0.694 | Noonan syndrome | Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenot... | BeFree | 16804314 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) AND Noonan syndrome | ClinVar | Detail |
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) AND not provided | ClinVar | Detail |
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) AND RASopathy | ClinVar | Detail |
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) AND Noonan syndrome 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype? | 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
- rs397507505 dbSNP
- Genome
- hg38
- Position
- chr12:112,450,352-112,450,352
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser