Knowledge base for genomic medicine in Japanese
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中鎖アシルCoA脱水素酵素欠損症
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_000016.6(ACADM):c.1A>G (p.Met1Val) | ACADM | Pathogenic/Likely pathogenic | 1 | 76190473 | 76190473 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040771 |
| single nucleotide variant | NM_000016.6(ACADM):c.3G>C (p.Met1Ile) | ACADM | Pathogenic/Likely pathogenic | 1 | 76190475 | 76190475 | G | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000016.6(ACADM):c.30+2T>C | ACADM | Pathogenic/Likely pathogenic | 1 | 76190504 | 76190504 | T | C | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000016.6(ACADM):c.47del (p.Ser16fs) | ACADM | Pathogenic | 1 | 76194102 | 76194102 | TC | T | criteria provided, single submitter | ClinGen:CA658795477 |
| single nucleotide variant | NM_000016.6(ACADM):c.67C>T (p.Gln23Ter) | ACADM | Pathogenic | 1 | 76194122 | 76194122 | C | T | criteria provided, single submitter | - |
| Duplication | NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer) | ACADM | Pathogenic/Likely pathogenic | 1 | 76194157 | 76194158 | A | ATTAGGAT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576218 |
| single nucleotide variant | NM_000016.6(ACADM):c.118+1G>T | ACADM | Likely pathogenic | 1 | 76194174 | 76194174 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040772 |
| single nucleotide variant | NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) | ACADM | Pathogenic | 1 | 76198367 | 76198367 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA220173,UniProtKB:P11310#VAR_000317 |
| Deletion | NM_000016.6(ACADM):c.165del (p.Phe55fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76198373 | 76198373 | AT | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000016.6(ACADM):c.199T>C (p.Tyr67His) | ACADM | Pathogenic/Likely pathogenic | 1 | 76198409 | 76198409 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA252836,UniProtKB:P11310#VAR_013698,OMIM:607008.0011 |
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