Annotation Detail
Information
- Associated Genes
- SUPT7L LOC126806176
- Associated Variants
-
SUPT7L p.Gly389Asp (p.G389D)
(
ENST00000337768.10,
ENST00000404798.6,
ENST00000405491.5,
ENST00000406540.5,
ENST00000464789.2 )
SUPT7L p.Gly389Asp (p.G389D) ( ENST00000337768.10, ENST00000404798.6, ENST00000405491.5, ENST00000406540.5, ENST00000464789.2 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_014860.3(SUPT7L):c.1166G>A (p.Gly389Asp) AND not specified
- ClinVar Allele ID
- 2453158
- ClinVar RefSeq Alternation Syntax
- NM_001282731.2:c.1160G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282729.2:c.1166G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282732.2:c.761G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282730.2:c.1160G>A
- ClinVar RefSeq Alternation Syntax
- NM_014860.3:c.1166G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-02-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004279538
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs