chr12:103248989:G>T Detail (hg19) (PAH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:103,248,989-103,248,989 |
| hg38 | chr12:102,855,211-102,855,211 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000277.1:c.631C>A | NP_000268.1:p.Pro211Thr |
| Ensemble | ENST00000553106.6:c.631C>A | ENST00000553106.6:p.Pro211Thr |
| ENST00000307000.7:c.616C>A | ENST00000307000.7:p.Pro206Thr |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2019-07-10 | criteria provided, single submitter | not provided |
germline
not provided
|
Detail |
|
Pathogenic
|
2020-07-03 | reviewed by expert panel | phenylketonuria |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-09-11 | criteria provided, single submitter | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.389 | Classical phenylketonuria | In contrast, discordant metabolic phenotypes (mild PKU and MHP) were observed in... | BeFree | 11708866 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000277.3(PAH):c.631C>A (p.Pro211Thr) AND not provided | ClinVar | Detail |
| NM_000277.3(PAH):c.631C>A (p.Pro211Thr) AND Phenylketonuria | ClinVar | Detail |
| NM_000277.3(PAH):c.631C>A (p.Pro211Thr) AND 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | ClinVar | Detail |
| In contrast, discordant metabolic phenotypes (mild PKU and MHP) were observed in two unrelated patie... | 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
- rs62514931 dbSNP
- Genome
- hg19
- Position
- chr12:103,248,989-103,248,989
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser