Annotation Detail
Information
- Associated Genes
- SNCA
- Associated Variants
-
SNCA p.Ala53Thr (p.A53T)
(
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.Ala53Thr (p.A53T) ( 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 Lewy body dementia
- Source Database
- ClinVar
- Description
- NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) AND multiple conditions
- ClinVar Allele ID
- 29046
- ClinVar RefSeq Alternation Syntax
- NM_001375286.1:c.157G>A
- ClinVar RefSeq Alternation Syntax
- NM_001375285.1:c.157G>A
- ClinVar RefSeq Alternation Syntax
- NR_164676.1:n.455G>A
- ClinVar RefSeq Alternation Syntax
- NM_000345.4:c.157G>A
- ClinVar RefSeq Alternation Syntax
- NM_001146054.2:c.157G>A
- ClinVar RefSeq Alternation Syntax
- NM_001375287.1:c.157G>A
- ClinVar RefSeq Alternation Syntax
- NR_164675.1:n.382G>A
- ClinVar RefSeq Alternation Syntax
- NM_007308.3:c.157G>A
- ClinVar RefSeq Alternation Syntax
- NM_001375288.1:c.157G>A
- ClinVar RefSeq Alternation Syntax
- NM_001146055.2:c.157G>A
- ClinVar RefSeq Alternation Syntax
- NR_164674.1:n.235G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-02-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000526380
- ClinVar Disease
- Lewy body dementia
- ClinVar Disease
- Autosomal dominant Parkinson disease 1
- Observed Origin Sample
- germline
Drugs