Annotation Detail

Information
Associated Genes
LMNA LOC129931597
Associated Variants
LMNA p.Arg25Pro (p.R25P) ( ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6, ENST00000683032.1, ENST00000368299.7, ENST00000361308.9, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1 )
LMNA p.Arg25Pro (p.R25P) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_170707.4(LMNA):c.74G>C (p.Arg25Pro) AND not provided
ClinVar Allele ID
77829
ClinVar RefSeq Alternation Syntax
NM_001282626.2:c.74G>C
ClinVar RefSeq Alternation Syntax
NM_170707.4:c.74G>C
ClinVar RefSeq Alternation Syntax
NM_001282625.2:c.74G>C
ClinVar RefSeq Alternation Syntax
NM_005572.4:c.74G>C
ClinVar RefSeq Alternation Syntax
NM_170708.4:c.74G>C
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000057454
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs