chr12:102840507:G>A Detail (hg38) (PAH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:103,234,285-103,234,285 View the variant detail on this assembly version. |
| hg38 | chr12:102,840,507-102,840,507 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000277.1:c.1208C>T | NP_000268.1:p.Ala403Val |
| Ensemble | ENST00000307000.7:c.1193C>T | ENST00000307000.7:p.Ala398Val |
| ENST00000553106.6:c.1208C>T | ENST00000553106.6:p.Ala403Val |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| 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
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
unknown
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-12-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
not provided
unknown
|
Detail |
|
Pathogenic
|
2018-08-10 | reviewed by expert panel | phenylketonuria |
germline
inherited
unknown
|
Detail |
|
Pathogenic
|
2022-06-21 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
|
Pathogenic
|
2023-11-21 | criteria provided, single submitter | PAH-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.375 | Phenylketonurias | NA | CLINVAR | Detail | |
| 0.389 | Classical phenylketonuria | Among 107 families, 58 were classified as classic PKU (54.2%), 28 as mild PKU (2... | UNIPROT | 22513348 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000277.3(PAH):c.1208C>T (p.Ala403Val) AND not provided | ClinVar | Detail |
| NM_000277.3(PAH):c.1208C>T (p.Ala403Val) AND Phenylketonuria | ClinVar | Detail |
| NM_000277.3(PAH):c.1208C>T (p.Ala403Val) AND Inborn genetic diseases | ClinVar | Detail |
| NM_000277.3(PAH):c.1208C>T (p.Ala403Val) AND PAH-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Among 107 families, 58 were classified as classic PKU (54.2%), 28 as mild PKU (25.9%) and 21 as MHP ... | 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
- rs5030857 dbSNP
- Genome
- hg38
- Position
- chr12:102,840,507-102,840,507
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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)
- 121306
- Allele Counts in All Race (ExAC)
- 65
- Heterozygous Counts in All Race (ExAC)
- 65
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.358349957957562E-4
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