Knowledge base for genomic medicine in Japanese
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フェニルケトン尿症
小児・神経疾患
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_000277.3(PAH):c.442G>A (p.Gly148Ser) | PAH | Likely pathogenic | 12 | 103260441 | 103260441 | C | T | reviewed by expert panel | ClinGen:CA229551,UniProtKB:P00439#VAR_000897 |
| Deletion | NM_000277.3(PAH):c.443_509+1del | PAH | Pathogenic | 12 | 103260373 | 103260440 | ACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC | A | reviewed by expert panel | ClinGen:CA229552 |
| single nucleotide variant | NM_000277.3(PAH):c.460T>C (p.Tyr154His) | PAH | Likely pathogenic | 12 | 103260423 | 103260423 | A | G | reviewed by expert panel | ClinGen:CA229557 |
| single nucleotide variant | NM_000277.3(PAH):c.464G>A (p.Arg155His) | PAH | Pathogenic | 12 | 103260419 | 103260419 | C | T | reviewed by expert panel | ClinGen:CA229559 |
| single nucleotide variant | NM_000277.3(PAH):c.464G>C (p.Arg155Pro) | PAH | Likely pathogenic | 12 | 103260419 | 103260419 | C | G | reviewed by expert panel | ClinGen:CA229561,UniProtKB:P00439#VAR_009242 |
| single nucleotide variant | NM_000277.3(PAH):c.470G>T (p.Arg157Ile) | PAH | Likely pathogenic | 12 | 103260413 | 103260413 | C | A | criteria provided, single submitter | ClinGen:CA229567 |
| single nucleotide variant | NM_000277.3(PAH):c.472C>T (p.Arg158Trp) | PAH | Pathogenic | 12 | 103260411 | 103260411 | G | A | reviewed by expert panel | ClinGen:CA229570,UniProtKB:P00439#VAR_000902 |
| single nucleotide variant | NM_000277.3(PAH):c.482T>C (p.Phe161Ser) | PAH | Pathogenic/Likely pathogenic | 12 | 103260401 | 103260401 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA229575,UniProtKB:P00439#VAR_000904 |
| single nucleotide variant | NM_000277.3(PAH):c.490A>G (p.Ile164Val) | PAH | Likely pathogenic | 12 | 103260393 | 103260393 | T | C | reviewed by expert panel | ClinGen:CA229576 |
| single nucleotide variant | NM_000277.3(PAH):c.491T>C (p.Ile164Thr) | PAH | Pathogenic | 12 | 103260392 | 103260392 | A | G | criteria provided, single submitter | ClinGen:CA229578,UniProtKB:P00439#VAR_000905 |
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