Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
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.929C>T (p.Ser310Phe) | PAH | Pathogenic/Likely pathogenic | 12 | 103240713 | 103240713 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA229855,UniProtKB:P00439#VAR_000995 |
| Deletion | NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer) | PAH | Pathogenic | 12 | 103240702 | 103240712 | GGTGCACCCAGA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA229856 |
| single nucleotide variant | NM_000277.3(PAH):c.935G>A (p.Gly312Asp) | PAH | Likely pathogenic | 12 | 103240707 | 103240707 | C | T | reviewed by expert panel | ClinGen:CA229857 |
| single nucleotide variant | NM_000277.3(PAH):c.938C>T (p.Ala313Val) | PAH | Pathogenic | 12 | 103240704 | 103240704 | G | A | reviewed by expert panel | ClinGen:CA229861 |
| single nucleotide variant | NM_000277.3(PAH):c.940C>A (p.Pro314Thr) | PAH | Pathogenic/Likely pathogenic | 12 | 103240702 | 103240702 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA229863 |
| single nucleotide variant | NM_000277.3(PAH):c.940C>T (p.Pro314Ser) | PAH | Pathogenic | 12 | 103240702 | 103240702 | G | A | reviewed by expert panel | ClinGen:CA229865,UniProtKB:P00439#VAR_068006 |
| Deletion | NM_000277.3(PAH):c.941del (p.Pro314fs) | PAH | Pathogenic | 12 | 103240701 | 103240701 | AG | A | reviewed by expert panel | ClinGen:CA229866 |
| single nucleotide variant | NM_000277.3(PAH):c.941C>A (p.Pro314His) | PAH | Pathogenic/Likely pathogenic | 12 | 103240701 | 103240701 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA229867,UniProtKB:P00439#VAR_000997 |
| single nucleotide variant | NM_000277.3(PAH):c.960G>C (p.Lys320Asn) | PAH | Pathogenic | 12 | 103240682 | 103240682 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA229871 |
| single nucleotide variant | NM_000277.3(PAH):c.964G>A (p.Ala322Thr) | PAH | Pathogenic/Likely pathogenic | 12 | 103240678 | 103240678 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA229875,UniProtKB:P00439#VAR_000999 |
Copyright © Japan Institute for Health Security. All rights reserved.