Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Arg335Trp (p.R335W)
(
ENST00000368299.7,
ENST00000361308.9,
ENST00000368300.9,
ENST00000682650.1,
ENST00000504687.7,
ENST00000676385.2,
ENST00000448611.6,
ENST00000368301.6,
ENST00000677389.1,
ENST00000675667.1,
ENST00000675939.1,
ENST00000368297.5,
ENST00000683032.1,
ENST00000473598.6 )
LMNA p.Arg335Trp (p.R335W) ( 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
- Emery-Dreifuss muscular dystrophy 3, autosomal recessive Mandibuloacral dysplasia with type A lipodystrophy Familial partial lipodystrophy, Dunnigan type dilated cardiomyopathy 1A Heart-hand syndrome, Slovenian type congenital muscular dystrophy due to LMNA mutation restrictive dermopathy 2 Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2B1 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Source Database
- ClinVar
- Description
- NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions
- ClinVar Allele ID
- 45135
- ClinVar RefSeq Alternation Syntax
- NM_001257374.3:c.667C>T
- ClinVar RefSeq Alternation Syntax
- NM_170707.4:c.1003C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282626.2:c.1003C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282625.2:c.1003C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282624.2:c.760C>T
- ClinVar RefSeq Alternation Syntax
- NM_005572.4:c.1003C>T
- ClinVar RefSeq Alternation Syntax
- NM_170708.4:c.1003C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-04-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002477025
- ClinVar Disease
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- ClinVar Disease
- Emery-Dreifuss muscular dystrophy 3, autosomal recessive
- ClinVar Disease
- Familial partial lipodystrophy, Dunnigan type
- ClinVar Disease
- Heart-hand syndrome, Slovenian type
- ClinVar Disease
- Charcot-Marie-Tooth disease type 2B1
- ClinVar Disease
- Hutchinson-Gilford syndrome
- ClinVar Disease
- Congenital muscular dystrophy due to LMNA mutation
- ClinVar Disease
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- ClinVar Disease
- Restrictive dermopathy 2
- ClinVar Disease
- Mandibuloacral dysplasia with type A lipodystrophy
- ClinVar Disease
- Dilated cardiomyopathy 1A
- Observed Origin Sample
- unknown
Drugs