Annotation Detail
Information
- Associated Genes
- SNCA
- Associated Variants
-
SNCA p.Ala30Pro (p.A30P)
(
ENST00000336904.7,
ENST00000345009.8,
ENST00000394986.5,
ENST00000394989.6,
ENST00000394991.8,
ENST00000420646.6,
ENST00000502987.5,
ENST00000505199.5,
ENST00000506244.5,
ENST00000508895.5,
ENST00000611107.1,
ENST00000618500.4,
ENST00000673718.1,
ENST00000673902.1,
ENST00000674129.1 )
SNCA p.Ala30Pro (p.A30P) ( ENST00000336904.7, ENST00000345009.8, ENST00000394986.5, ENST00000394989.6, ENST00000394991.8, ENST00000420646.6, ENST00000502987.5, ENST00000505199.5, ENST00000506244.5, ENST00000508895.5, ENST00000611107.1, ENST00000618500.4, ENST00000673718.1, ENST00000673902.1, ENST00000674129.1 ) - Associated Disease
- Autosomal dominant Parkinson disease 1
- Source Database
- ClinVar
- Description
- NM_000345.4(SNCA):c.88G>C (p.Ala30Pro) AND Autosomal dominant Parkinson disease 1
- ClinVar Allele ID
- 29047
- ClinVar RefSeq Alternation Syntax
- NM_001375287.1:c.88G>C
- ClinVar RefSeq Alternation Syntax
- NR_164675.1:n.313G>C
- ClinVar RefSeq Alternation Syntax
- NM_001375288.1:c.88G>C
- ClinVar RefSeq Alternation Syntax
- NM_000345.4:c.88G>C
- ClinVar RefSeq Alternation Syntax
- NM_001146054.2:c.88G>C
- ClinVar RefSeq Alternation Syntax
- NM_007308.3:c.88G>C
- ClinVar RefSeq Alternation Syntax
- NR_164674.1:n.166G>C
- ClinVar RefSeq Alternation Syntax
- NM_001375285.1:c.88G>C
- ClinVar RefSeq Alternation Syntax
- NM_001146055.2:c.88G>C
- ClinVar RefSeq Alternation Syntax
- NM_001375286.1:c.88G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-11-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015045
- ClinVar Disease
- Autosomal dominant Parkinson disease 1
- Observed Origin Sample
- germline
- Pubmed
- 24158909
- Pubmed
- 20437567
- Pubmed
- 24158904
- Pubmed
- 9462735
- Pubmed
- 11376188
Drugs