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
Source Database: ClinVar
Description: NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) AND Autosomal dominant Parkinson disease 1
Pubmed: 9827625
Pubmed: 10417297
Pubmed: 18704525
Pubmed: 9499430
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: 2010-06-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000015044
ClinVar Disease: Autosomal dominant Parkinson disease 1
Observed Origin Sample: germline
Pubmed: 11261505
Pubmed: 19632874
Pubmed: 9197268
Pubmed: 20340137
Pubmed: 17489854
Pubmed: 9506559

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