Annotation Detail
Information
- Associated Genes
- TBCD ZNF750
- Associated Variants
-
TBCD c.1318+16693G>A, ZNF750 p.Tyr276= (p.Y276=)
(
ENST00000684544.1,
ENST00000684429.1,
ENST00000684760.1,
ENST00000683282.1,
ENST00000269394.4,
ENST00000539345.6,
ENST00000682479.1,
ENST00000684188.1,
ENST00000572562.1,
ENST00000684408.1,
ENST00000682722.1,
ENST00000684464.1,
ENST00000684349.1,
ENST00000684000.1,
ENST00000355528.9,
ENST00000683821.1 )
TBCD c.1318+16693G>A, ZNF750 p.Tyr276= (p.Y276=) ( ENST00000355528.9, ENST00000539345.6, ENST00000682479.1, ENST00000682722.1, ENST00000683282.1, ENST00000683821.1, ENST00000684000.1, ENST00000684188.1, ENST00000684349.1, ENST00000684408.1, ENST00000684429.1, ENST00000684464.1, ENST00000684544.1, ENST00000684760.1, ENST00000269394.4, ENST00000572562.1 ) - Associated Disease
- ZNF750-related disorder
- Source Database
- ClinVar
- Description
- NM_024702.3(ZNF750):c.828C>T (p.Tyr276=) AND ZNF750-related disorder
- ClinVar Allele ID
- 3220654
- ClinVar RefSeq Alternation Syntax
- NM_001411102.1:c.1318+16693G>A
- ClinVar RefSeq Alternation Syntax
- NM_024702.3:c.828C>T
- ClinVar RefSeq Alternation Syntax
- NM_005993.5:c.1318+16693G>A
- ClinVar RefSeq Alternation Syntax
- NM_001411101.1:c.1267+16693G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-05-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003978965
- ClinVar Disease
- ZNF750-related disorder
- Observed Origin Sample
- germline
Drugs