Annotation Detail
Information
- Associated Genes
- SPART
- Associated Variants
-
SPART p.Asp121Tyr (p.D121Y)
(
ENST00000355182.8,
ENST00000650221.1,
ENST00000494062.2,
ENST00000438666.7,
ENST00000451493.5 )
SPART p.Asp121Tyr (p.D121Y) ( ENST00000355182.8, ENST00000438666.7, ENST00000451493.5, ENST00000494062.2, ENST00000650221.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) AND not specified
- ClinVar Allele ID
- 213101
- ClinVar RefSeq Alternation Syntax
- NM_015087.5:c.361G>T
- ClinVar RefSeq Alternation Syntax
- NM_001142296.2:c.361G>T
- ClinVar RefSeq Alternation Syntax
- NM_001142294.2:c.361G>T
- ClinVar RefSeq Alternation Syntax
- NM_001142295.2:c.361G>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-01-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000592989
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs