Annotation Detail
Information
- Associated Genes
- B3GALT6
- Associated Variants
-
B3GALT6 p.Leu153Ile (p.L153I)
(
ENST00000379198.5 )
B3GALT6 p.Leu153Ile (p.L153I) ( ENST00000379198.5 ) - Associated Disease
- spondyloepimetaphyseal dysplasia with joint laxity Ehlers-Danlos syndrome, spondylodysplastic type, 2
- Source Database
- ClinVar
- Description
- NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) AND multiple conditions
- ClinVar Allele ID
- 364355
- ClinVar RefSeq Alternation Syntax
- NM_080605.4:c.457C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000880818
- ClinVar Disease
- Spondyloepimetaphyseal dysplasia with joint laxity
- ClinVar Disease
- Ehlers-Danlos syndrome, spondylodysplastic type, 2
- Observed Origin Sample
- germline
Drugs