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。
ブルガダ症候群
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) | ||||||||||
| Duplication | NM_000238.4(KCNH2):c.3251dup (p.Pro1086fs) | KCNH2 | Pathogenic | 7 | 150644043 | 150644044 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA305339 |
| Deletion | NM_000238.4(KCNH2):c.3136del (p.Gln1046fs) | KCNH2 | Pathogenic | 7 | 150644432 | 150644432 | TG | T | criteria provided, single submitter | ClinGen:CA008026 |
| Indel | NM_000238.4(KCNH2):c.3112_3129delinsCA (p.Val1038fs) | KCNH2 | Pathogenic | 7 | 150644439 | 150644456 | ATCCAGCCTGCTCTCCAC | TG | criteria provided, single submitter | ClinGen:CA007983 |
| Duplication | NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs) | KCNH2 | Pathogenic | 7 | 150644455 | 150644456 | A | ACGTCGCCC | criteria provided, multiple submitters, no conflicts | ClinGen:CA305338 |
| Duplication | NM_000238.4(KCNH2):c.3104_3107dup (p.Asp1037fs) | KCNH2 | Pathogenic | 7 | 150644460 | 150644461 | G | GCCCC | criteria provided, single submitter | ClinGen:CA305337 |
| Deletion | NM_000238.4(KCNH2):c.3107del (p.Gly1036fs) | KCNH2 | Pathogenic | 7 | 150644461 | 150644461 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA007951 |
| Duplication | NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs) | KCNH2 | Pathogenic | 7 | 150644460 | 150644461 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA305506 |
| Deletion | NM_000238.4(KCNH2):c.3103del (p.Arg1035fs) | KCNH2 | Pathogenic | 7 | 150644465 | 150644465 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007936 |
| Duplication | NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) | KCNH2 | Pathogenic | 7 | 150644468 | 150644469 | G | GCCGC | criteria provided, multiple submitters, no conflicts | ClinGen:CA305336 |
| Duplication | NM_000238.4(KCNH2):c.3079dup (p.Leu1027fs) | KCNH2 | Pathogenic | 7 | 150644488 | 150644489 | A | AG | criteria provided, single submitter | ClinGen:CA305335 |
Copyright © Japan Institute for Health Security. All rights reserved.