Annotation Detail
Information
- Associated Genes
- INS TH INS-IGF2
- Associated Variants
-
INS c.-23T>A, INS-IGF2 c.-17-6T>A
(
ENST00000397270.1,
ENST00000381330.5,
ENST00000397262.5,
ENST00000250971.7 )
INS c.-23T>A, INS-IGF2 c.-17-6T>A ( ENST00000397270.1, ENST00000250971.7, ENST00000381330.5, ENST00000397262.5 ) - Associated Disease
- Autosomal recessive DOPA responsive dystonia
- Source Database
- ClinVar
- Description
- NM_000207.3(INS):c.-17-6T>A AND Autosomal recessive DOPA responsive dystonia
- ClinVar Allele ID
- 319828
- ClinVar RefSeq Alternation Syntax
- NM_001042376.3:c.-17-6T>A
- ClinVar RefSeq Alternation Syntax
- NM_001185098.2:c.-23T>A
- ClinVar RefSeq Alternation Syntax
- NM_000207.3:c.-17-6T>A
- ClinVar RefSeq Alternation Syntax
- NM_001185097.2:c.-17-6T>A
- ClinVar RefSeq Alternation Syntax
- NM_001291897.2:c.-17-6T>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000299006
- ClinVar Disease
- Autosomal recessive DOPA responsive dystonia
- Observed Origin Sample
- germline
Drugs