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.1012G>T (p.Asp338Tyr) | PAH | Pathogenic | 12 | 103238167 | 103238167 | C | A | reviewed by expert panel | ClinGen:CA229269,UniProtKB:P00439#VAR_001004 |
| single nucleotide variant | NM_000277.3(PAH):c.1021A>T (p.Lys341Ter) | PAH | Pathogenic | 12 | 103238158 | 103238158 | T | A | reviewed by expert panel | ClinGen:CA229272 |
| single nucleotide variant | NM_000277.3(PAH):c.1024G>A (p.Ala342Thr) | PAH | Pathogenic/Likely pathogenic | 12 | 103238155 | 103238155 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA229276,UniProtKB:P00439#VAR_001007 |
| single nucleotide variant | NM_000277.3(PAH):c.1024G>C (p.Ala342Pro) | PAH | Pathogenic | 12 | 103238155 | 103238155 | C | G | criteria provided, single submitter | ClinGen:CA229277 |
| Deletion | NM_000277.3(PAH):c.1024del (p.Ala342fs) | PAH | Pathogenic | 12 | 103238155 | 103238155 | GC | G | reviewed by expert panel | ClinGen:CA229279 |
| single nucleotide variant | NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp) | PAH | Likely pathogenic | 12 | 103238152 | 103238152 | A | C | reviewed by expert panel | ClinGen:CA229280 |
| single nucleotide variant | NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys) | PAH | Pathogenic/Likely pathogenic | 12 | 103238151 | 103238151 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA229282,UniProtKB:P00439#VAR_001008 |
| single nucleotide variant | NM_000277.3(PAH):c.1030G>A (p.Gly344Ser) | PAH | Likely pathogenic | 12 | 103238149 | 103238149 | C | T | reviewed by expert panel | ClinGen:CA229285 |
| single nucleotide variant | NM_000277.3(PAH):c.1031G>A (p.Gly344Asp) | PAH | Likely pathogenic | 12 | 103238148 | 103238148 | C | T | reviewed by expert panel | ClinGen:CA229288 |
| single nucleotide variant | NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) | PAH | Likely pathogenic | 12 | 103238146 | 103238146 | C | T | reviewed by expert panel | ClinGen:CA229291,UniProtKB:P00439#VAR_001010 |
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