Annotation Detail
Information
- Associated Genes
- ALPL
- Associated Variants
-
ALPL p.Ile72Thr (p.I72T)
(
ENST00000540617.5,
ENST00000539907.5,
ENST00000374832.5,
ENST00000374840.8 )
ALPL p.Ile72Thr (p.I72T) ( ENST00000374832.5, ENST00000374840.8, ENST00000539907.5, ENST00000540617.5 ) - Associated Disease
- ALPL-related disorder
- Source Database
- ClinVar
- Description
- NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) AND ALPL-related disorder
- ClinVar Allele ID
- 186615
- ClinVar RefSeq Alternation Syntax
- NM_001127501.4:c.50T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369805.2:c.215T>C
- ClinVar RefSeq Alternation Syntax
- NM_000478.6:c.215T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369803.2:c.215T>C
- ClinVar RefSeq Alternation Syntax
- NM_001177520.3:c.66+385T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369804.2:c.215T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004552944
- ClinVar Disease
- ALPL-related disorder
- Observed Origin Sample
- germline
Drugs