Annotation Detail

Information
Associated Genes
LMNA
Associated Variants
LMNA p.Ser636= (p.S636=) ( ENST00000683032.1, ENST00000473598.6, ENST00000675667.1, ENST00000675939.1, ENST00000448611.6, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Ser636= (p.S636=) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000682650.1, ENST00000683032.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) AND not provided
ClinVar Allele ID
77772
ClinVar RefSeq Alternation Syntax
NM_170707.4:c.1908C>T
ClinVar RefSeq Alternation Syntax
NM_001282626.2:c.1818+90C>T
ClinVar RefSeq Alternation Syntax
NM_001257374.3:c.1572C>T
ClinVar RefSeq Alternation Syntax
NM_170708.4:c.1818C>T
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000057372
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs