Annotation Detail
Information
- Associated Genes
- NSRP1 MIR423 LOC126862529
- Associated Variants
-
NSRP1 c.20+302A>C
(
ENST00000247026.10,
ENST00000612959.4,
ENST00000584423.5,
ENST00000479218.6 )
NSRP1 c.20+302A>C ( ENST00000247026.10, ENST00000479218.6, ENST00000584423.5, ENST00000612959.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_032141.4(NSRP1):c.20+302A>C AND not provided
- ClinVar Allele ID
- 1211608
- ClinVar RefSeq Alternation Syntax
- NR_029945.1:n.87A>C
- ClinVar RefSeq Alternation Syntax
- NM_001261467.2:c.-49+302A>C
- ClinVar RefSeq Alternation Syntax
- NM_032141.4:c.20+302A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-01-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001597400
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs