Annotation Detail
Information
- Associated Genes
- XRCC4
- Associated Variants
-
XRCC4 p.Ser309= (p.S309=)
(
ENST00000282268.7,
ENST00000338635.10,
ENST00000396027.9,
ENST00000511817.1 )
XRCC4 p.Ser309= (p.S309=) ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 ) - Associated Disease
- Short stature, microcephaly, and endocrine dysfunction
- Source Database
- ClinVar
- Description
- NM_003401.5(XRCC4):c.921T>G (p.Ser307=) AND Short stature, microcephaly, and endocrine dysfunction
- ClinVar Allele ID
- 1236313
- ClinVar RefSeq Alternation Syntax
- NM_022550.4:c.921T>G
- ClinVar RefSeq Alternation Syntax
- NM_003401.5:c.921T>G
- ClinVar RefSeq Alternation Syntax
- NM_022406.5:c.927T>G
- ClinVar RefSeq Alternation Syntax
- NM_001318012.3:c.927T>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-12-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002243357
- ClinVar Disease
- Short stature, microcephaly, and endocrine dysfunction
- Observed Origin Sample
- germline
Drugs