Annotation Detail
Information
- Associated Genes
- CLCN7
- Associated Variants
-
CLCN7 p.Arg271Gln (p.R271Q)
(
ENST00000699947.1,
ENST00000262318.12,
ENST00000382745.9 )
CLCN7 p.Arg271Gln (p.R271Q) ( ENST00000262318.12, ENST00000382745.9, ENST00000699947.1 ) - Associated Disease
- Hypopigmentation, organomegaly, and delayed myelination and development autosomal dominant osteopetrosis 2 autosomal recessive osteopetrosis 4
- Source Database
- ClinVar
- Description
- NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) AND multiple conditions
- ClinVar Allele ID
- 1440843
- ClinVar RefSeq Alternation Syntax
- NM_001287.6:c.812G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114331.3:c.740G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-07-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002482778
- ClinVar Disease
- Autosomal recessive osteopetrosis 4
- ClinVar Disease
- Autosomal dominant osteopetrosis 2
- ClinVar Disease
- Hypopigmentation, organomegaly, and delayed myelination and development
- Observed Origin Sample
- unknown
Drugs