Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Gly608= (p.G608=)
(
ENST00000361308.9,
ENST00000368299.7,
ENST00000676385.2,
ENST00000504687.7,
ENST00000368300.9,
ENST00000682650.1,
ENST00000448611.6,
ENST00000675667.1,
ENST00000675939.1,
ENST00000473598.6,
ENST00000683032.1 )
LMNA p.Gly608= (p.G608=) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Hutchinson-Gilford syndrome
- Source Database
- ClinVar
- Description
- NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND Hutchinson-Gilford syndrome
- ClinVar Allele ID
- 29539
- ClinVar RefSeq Alternation Syntax
- NM_001282626.2:c.1818+6C>T
- ClinVar RefSeq Alternation Syntax
- NM_170707.4:c.1824C>T
- ClinVar RefSeq Alternation Syntax
- NM_170708.4:c.1734C>T
- ClinVar RefSeq Alternation Syntax
- NM_001257374.3:c.1488C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-09-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015593
- ClinVar Disease
- Hutchinson-Gilford syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
- Pubmed
- 15342704
- Pubmed
- 15793835
- Pubmed
- 12768443
- Pubmed
- 16738054
- Pubmed
- 16126733
- Pubmed
- 15317753
- Pubmed
- 17469202
- Pubmed
- 12714972
- Pubmed
- 11799477
- Pubmed
- 15032975
- Pubmed
- 19172989
- Pubmed
- 15184648
Drugs