chr12:102912794:A>C Detail (hg38) (PAH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:103,306,572-103,306,572 View the variant detail on this assembly version. |
| hg38 | chr12:102,912,794-102,912,794 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000277.1:c.165T>G | NP_000268.1:p.Phe55Leu |
| Ensemble | ENST00000307000.7:c.150T>G | ENST00000307000.7:p.Phe50Leu |
| ENST00000553106.6:c.165T>G | ENST00000553106.6:p.Phe55Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
not provided
|
Detail |
|
Pathogenic
Likely pathogenic
|
2024-01-29 | criteria provided, multiple submitters, no conflicts | phenylketonuria |
germline
unknown
|
Detail |
|
Pathogenic
|
2016-12-30 | criteria provided, single submitter | Hyperphenylalaninemia |
germline
|
Detail |
|
Pathogenic
|
2020-11-13 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.375 | Phenylketonurias | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000277.3(PAH):c.165T>G (p.Phe55Leu) AND not provided | ClinVar | Detail |
| NM_000277.3(PAH):c.165T>G (p.Phe55Leu) AND Phenylketonuria | ClinVar | Detail |
| NM_000277.3(PAH):c.165T>G (p.Phe55Leu) AND Hyperphenylalaninemia | ClinVar | Detail |
| NM_000277.3(PAH):c.165T>G (p.Phe55Leu) AND See cases | 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
- rs199475598 dbSNP
- Genome
- hg38
- Position
- chr12:102,912,794-102,912,794
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121376
- Allele Counts in All Race (ExAC)
- 11
- Heterozygous Counts in All Race (ExAC)
- 11
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 9.062747165831795E-5
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