Knowledge base for genomic medicine in Japanese
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DICER1症候群
腫瘍性疾患
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_177438.3(DICER1):c.3676G>T (p.Glu1226Ter) | DICER1 | Pathogenic | 14 | 95570057 | 95570057 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586423 |
| single nucleotide variant | NM_177438.3(DICER1):c.3658C>T (p.Gln1220Ter) | DICER1 | Pathogenic | 14 | 95570075 | 95570075 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586424 |
| Deletion | NM_177438.3(DICER1):c.3589del (p.Cys1197fs) | DICER1 | Pathogenic | 14 | 95570144 | 95570144 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586425 |
| Deletion | NM_177438.3(DICER1):c.3579_3580del (p.Asn1193fs) | DICER1 | Pathogenic | 14 | 95570153 | 95570154 | CTG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586426 |
| single nucleotide variant | NM_177438.3(DICER1):c.3540C>A (p.Tyr1180Ter) | DICER1 | Pathogenic | 14 | 95570193 | 95570193 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586427 |
| Deletion | NM_177438.3(DICER1):c.3538_3539del (p.Tyr1180fs) | DICER1 | Pathogenic | 14 | 95570194 | 95570195 | GTA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586428 |
| Insertion | NM_177438.3(DICER1):c.3534_3535insAA (p.Ser1179fs) | DICER1 | Pathogenic | 14 | 95570198 | 95570199 | A | ATT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586429 |
| Indel | NM_177438.3(DICER1):c.3515_3525delinsA (p.Leu1172fs) | DICER1 | Pathogenic | 14 | 95570208 | 95570218 | AATTGCTGTAA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586430 |
| Deletion | NM_177438.3(DICER1):c.3300del (p.Lys1100fs) | DICER1 | Pathogenic | 14 | 95570433 | 95570433 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586431 |
| Deletion | NM_177438.3(DICER1):c.3277_3280del (p.Pro1092_Asn1093insTer) | DICER1 | Pathogenic | 14 | 95570453 | 95570456 | AAGTT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586432 |
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