Annotation Detail
Information
- Associated Genes
- VDR
- Associated Variants
-
VDR p.? (p.?)
(
ENST00000395324.6,
ENST00000549336.6,
ENST00000550325.5,
ENST00000229022.9 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 ) - Associated Disease
- Vitamin D-dependent rickets type II with alopecia
- Source Database
- ClinVar
- Description
- NM_000376.3(VDR):c.2T>G (p.Met1Arg) AND Vitamin D-dependent rickets type II with alopecia
- ClinVar Allele ID
- 3394831
- ClinVar RefSeq Alternation Syntax
- NM_001017535.2:c.2T>G
- ClinVar RefSeq Alternation Syntax
- NM_001374662.1:c.2T>G
- ClinVar RefSeq Alternation Syntax
- NM_000376.3:c.2T>G
- ClinVar RefSeq Alternation Syntax
- NM_001017536.2:c.152T>G
- ClinVar RefSeq Alternation Syntax
- NM_001364085.2:c.2T>G
- ClinVar RefSeq Alternation Syntax
- NM_001374661.1:c.2T>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004554972
- ClinVar Disease
- Vitamin D-dependent rickets type II with alopecia
- Observed Origin Sample
- unknown
Drugs