Annotation Detail
Information
- Associated Genes
- DOCK7
- Associated Variants
-
DOCK7 c.1801-894C>T
(
ENST00000634264.1,
ENST00000454575.6,
ENST00000340370.10,
ENST00000635123.1,
ENST00000404627.3,
ENST00000251157.10,
ENST00000635253.2 )
DOCK7 c.1801-894C>T ( ENST00000251157.10, ENST00000340370.10, ENST00000404627.3, ENST00000454575.6, ENST00000634264.1, ENST00000635123.1, ENST00000635253.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001367561.1(DOCK7):c.1801-894C>T AND not provided
- ClinVar Allele ID
- 1285999
- ClinVar RefSeq Alternation Syntax
- NM_001272000.2:c.1801-894C>T
- ClinVar RefSeq Alternation Syntax
- NM_001330614.2:c.1801-894C>T
- ClinVar RefSeq Alternation Syntax
- NM_001367561.1:c.1801-894C>T
- ClinVar RefSeq Alternation Syntax
- NM_001272001.2:c.1801-894C>T
- ClinVar RefSeq Alternation Syntax
- NM_033407.4:c.1801-894C>T
- ClinVar RefSeq Alternation Syntax
- NM_001271999.2:c.1801-894C>T
- ClinVar RefSeq Alternation Syntax
- NM_001272002.2:c.*632C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-03-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001719422
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs