Annotation Detail
Information
- Associated Genes
- PLA2G6
- Associated Variants
-
PLA2G6 p.Ser34Leu (p.S34L)
(
ENST00000332509.8,
ENST00000335539.7,
ENST00000402064.5,
ENST00000660610.1,
ENST00000663895.1,
ENST00000664587.1,
ENST00000667521.1,
ENST00000668949.1 )
PLA2G6 p.Ser34Leu (p.S34L) ( ENST00000332509.8, ENST00000335539.7, ENST00000402064.5, ENST00000660610.1, ENST00000663895.1, ENST00000664587.1, ENST00000667521.1, ENST00000668949.1 ) - Associated Disease
- Autosomal recessive Parkinson disease 14 neurodegeneration with brain iron accumulation 2b Infantile neuroaxonal dystrophy
- Source Database
- ClinVar
- Description
- NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) AND multiple conditions
- ClinVar Allele ID
- 347766
- ClinVar RefSeq Alternation Syntax
- NM_003560.4:c.101C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349864.2:c.101C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349865.2:c.101C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349867.2:c.-565C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349866.2:c.101C>T
- ClinVar RefSeq Alternation Syntax
- NM_001199562.3:c.101C>T
- ClinVar RefSeq Alternation Syntax
- NM_001004426.3:c.101C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349868.2:c.-390C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349869.2:c.-565C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000765652
- ClinVar Disease
- Autosomal recessive Parkinson disease 14
- ClinVar Disease
- Neurodegeneration with brain iron accumulation 2B
- ClinVar Disease
- Infantile neuroaxonal dystrophy
- Observed Origin Sample
- unknown
Drugs