Knowledge base for genomic medicine in Japanese
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先天性QT延長症候群
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) | ||||||||||
| Deletion | NM_000238.4(KCNH2):c.2857del (p.Leu953fs) | KCNH2 | Pathogenic | 7 | 150644802 | 150644802 | AG | A | criteria provided, single submitter | ClinGen:CA007519 |
| Duplication | NM_000238.4(KCNH2):c.2797dup (p.Ser933fs) | KCNH2 | Pathogenic | 7 | 150644861 | 150644862 | C | CT | criteria provided, single submitter | ClinGen:CA305330 |
| Deletion | NM_000238.4(KCNH2):c.2792del (p.Pro931fs) | KCNH2 | Pathogenic | 7 | 150644867 | 150644867 | CG | C | criteria provided, single submitter | ClinGen:CA007455 |
| Deletion | NM_000238.4(KCNH2):c.2783_2789del (p.Gly928fs) | KCNH2 | Pathogenic | 7 | 150644870 | 150644876 | GCTCTCCC | G | criteria provided, single submitter | ClinGen:CA007437 |
| Duplication | NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150644873 | 150644874 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA305329 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2780G>A (p.Trp927Ter) | KCNH2 | Pathogenic | 7 | 150644879 | 150644879 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007420 |
| Deletion | NM_000238.4(KCNH2):c.2777del (p.Pro926fs) | KCNH2 | Pathogenic | 7 | 150644882 | 150644882 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007411 |
| Duplication | NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) | KCNH2 | Pathogenic | 7 | 150644883 | 150644884 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA305328,OMIM:152427.0020 |
| Deletion | NM_000238.4(KCNH2):c.2768del (p.Pro923fs) | KCNH2 | Pathogenic | 7 | 150644891 | 150644891 | CG | C | criteria provided, single submitter | ClinGen:CA007354 |
| Deletion | NM_000238.4(KCNH2):c.2764del (p.Arg922fs) | KCNH2 | Pathogenic | 7 | 150644895 | 150644895 | CG | C | criteria provided, single submitter | ClinGen:CA007339 |
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