Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Arg644Cys (p.R644C)
(
ENST00000683032.1,
ENST00000473598.6,
ENST00000675939.1,
ENST00000675667.1,
ENST00000448611.6,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1,
ENST00000504687.7,
ENST00000368299.7,
ENST00000361308.9 )
LMNA p.Arg644Cys (p.R644C) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- dilated cardiomyopathy 1A congenital muscular dystrophy due to LMNA mutation Heart-hand syndrome, Slovenian type Mandibuloacral dysplasia with type A lipodystrophy Emery-Dreifuss muscular dystrophy 3, autosomal recessive restrictive dermopathy 2 Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Hutchinson-Gilford syndrome
- Source Database
- ClinVar
- Description
- NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions
- ClinVar Allele ID
- 29566
- ClinVar RefSeq Alternation Syntax
- NM_001406994.1:c.1306C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406983.1:c.1930C>T
- ClinVar RefSeq Alternation Syntax
- NM_170708.4:c.1840C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406996.1:c.1372C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407000.1:c.1306C>T
- ClinVar RefSeq Alternation Syntax
- NM_001257374.3:c.1594C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406991.1:c.1930C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406997.1:c.1372C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406990.1:c.1372C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282626.2:c.1818+112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406986.1:c.1687C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406988.1:c.1633C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406987.1:c.1687C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406999.1:c.1306C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407001.1:c.1306C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406995.1:c.1372C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406985.1:c.1930C>T
- ClinVar RefSeq Alternation Syntax
- NM_170707.4:c.1930C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406993.1:c.1372C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406989.1:c.1594C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-03-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003224100
- 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
- germline
Drugs