Annotation Detail
Information
- Associated Genes
- LMNA LOC126805877
- Associated Variants
-
LMNA p.Arg133Pro (p.R133P)
(
ENST00000368301.6,
ENST00000677389.1,
ENST00000675667.1,
ENST00000675939.1,
ENST00000368297.5,
ENST00000683032.1,
ENST00000473598.6,
ENST00000368299.7,
ENST00000361308.9,
ENST00000504687.7,
ENST00000368300.9,
ENST00000682650.1,
ENST00000676385.2,
ENST00000448611.6 )
LMNA p.Arg133Pro (p.R133P) ( ENST00000361308.9, ENST00000368297.5, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Charcot-Marie-Tooth disease type 2
- Source Database
- ClinVar
- Description
- NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) AND Charcot-Marie-Tooth disease type 2
- ClinVar Allele ID
- 29547
- ClinVar RefSeq Alternation Syntax
- NM_001282624.2:c.155G>C
- ClinVar RefSeq Alternation Syntax
- NM_001257374.3:c.62G>C
- ClinVar RefSeq Alternation Syntax
- NM_170707.4:c.398G>C
- ClinVar RefSeq Alternation Syntax
- NM_170708.4:c.398G>C
- ClinVar RefSeq Alternation Syntax
- NM_001282625.2:c.398G>C
- ClinVar RefSeq Alternation Syntax
- NM_001282626.2:c.398G>C
- ClinVar RefSeq Alternation Syntax
- NM_005572.4:c.398G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-03-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000686691
- ClinVar Disease
- Charcot-Marie-Tooth disease type 2
- Observed Origin Sample
- germline
Drugs