Annotation Detail
Information
- Associated Genes
- C19orf12
- Associated Variants
-
C19orf12 p.Ala23= (p.A23=)
(
ENST00000323670.14,
ENST00000392275.1,
ENST00000392276.1,
ENST00000592153.5,
ENST00000623113.3 )
C19orf12 p.Ala23= (p.A23=) ( ENST00000323670.14, ENST00000392275.1, ENST00000392276.1, ENST00000592153.5, ENST00000623113.3 ) - Associated Disease
- hereditary spastic paraplegia
- Source Database
- ClinVar
- Description
- NM_031448.6(C19orf12):c.69G>A (p.Ala23=) AND Hereditary spastic paraplegia
- ClinVar Allele ID
- 243318
- ClinVar RefSeq Alternation Syntax
- NM_001282929.1:c.-32-5368G>A
- ClinVar RefSeq Alternation Syntax
- NM_001031726.4:c.69G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282931.3:c.-245G>A
- ClinVar RefSeq Alternation Syntax
- NM_031448.6:c.69G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282930.3:c.-32-5368G>A
- ClinVar RefSeq Alternation Syntax
- NM_001256046.3:c.69G>A
- ClinVar RefSeq Alternation Syntax
- NM_001256047.2:c.69G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-10-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001847954
- ClinVar Disease
- Hereditary spastic paraplegia
- Observed Origin Sample
- germline
Drugs