Annotation Detail
Information
- Associated Genes
- SPART
- Associated Variants
-
SPART p.Asp652Asn (p.D652N)
(
ENST00000355182.8,
ENST00000494062.2,
ENST00000650221.1,
ENST00000451493.5,
ENST00000438666.7 )
SPART p.Asp652Asn (p.D652N) ( ENST00000355182.8, ENST00000438666.7, ENST00000451493.5, ENST00000494062.2, ENST00000650221.1 ) - Associated Disease
- Troyer syndrome
- Source Database
- ClinVar
- Description
- NM_015087.5(SPART):c.1954G>A (p.Asp652Asn) AND Troyer syndrome
- ClinVar Allele ID
- 336040
- ClinVar RefSeq Alternation Syntax
- NM_015087.5:c.1954G>A
- ClinVar RefSeq Alternation Syntax
- NM_001142296.2:c.1954G>A
- ClinVar RefSeq Alternation Syntax
- NM_001142294.2:c.1954G>A
- ClinVar RefSeq Alternation Syntax
- NM_001142295.2:c.1954G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000279728
- ClinVar Disease
- Troyer syndrome
- Observed Origin Sample
- germline
Drugs