Knowledge base for genomic medicine in Japanese
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アルカプトン尿症
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) | ||||||||||
| Indel | NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs) | HGD | Pathogenic | 3 | 120352163 | 120352165 | CTC | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040886 |
| Duplication | NM_000187.4(HGD):c.970dup (p.Val324fs) | HGD | Pathogenic/Likely pathogenic | 3 | 120357337 | 120357338 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040887 |
| Deletion | NM_000187.4(HGD):c.956del (p.Pro319fs) | HGD | Likely pathogenic | 3 | 120357352 | 120357352 | TG | T | criteria provided, single submitter | ClinGen:CA16040888 |
| Duplication | NM_000187.4(HGD):c.781dup (p.Ser261fs) | HGD | Likely pathogenic | 3 | 120360533 | 120360534 | G | GA | criteria provided, single submitter | ClinGen:CA16040889 |
| single nucleotide variant | NM_000187.4(HGD):c.649+2T>C | HGD | Likely pathogenic | 3 | 120365112 | 120365112 | A | G | criteria provided, single submitter | ClinGen:CA16040890 |
| Deletion | NM_000187.4(HGD):c.409del (p.Leu137fs) | HGD | Likely pathogenic | 3 | 120369646 | 120369646 | AG | A | criteria provided, single submitter | ClinGen:CA16040891 |
| Deletion | NM_000187.4(HGD):c.390del (p.Ala132fs) | HGD | Likely pathogenic | 3 | 120369665 | 120369665 | GC | G | criteria provided, single submitter | ClinGen:CA16040892 |
| Deletion | NM_000187.4(HGD):c.376_377del (p.Lys126fs) | HGD | Likely pathogenic | 3 | 120369678 | 120369679 | CTT | C | criteria provided, single submitter | ClinGen:CA16040893 |
| Deletion | NM_000187.4(HGD):c.346del (p.Leu116fs) | HGD | Likely pathogenic | 3 | 120369709 | 120369709 | AG | A | criteria provided, single submitter | ClinGen:CA16040894 |
| Deletion | NM_000187.4(HGD):c.339_342+2del | HGD | Likely pathogenic | 3 | 120371437 | 120371442 | TACACTC | T | criteria provided, single submitter | ClinGen:CA16040895 |
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