Variant #0000451848 (NC_000001.10:g.156108404C>T, LMNA(NM_170707.3):c.1824C>T)

Individual ID 00216526
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.156108404C>T
DNA change (hg38) g.156138613C>T
Published as -
ISCN -
DB-ID LMNA_000076 See all 29 reported entries
Variant remarks de novo, in patient
Reference PubMed: Eriksson 2003, OMIM:var0022
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site +BstXI
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LMNA NM_170707.3 +/. 11 c.1824C>T r.[1824c>u, 1819_1968del] p.[=, Val607_Gln656del]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000217595 DNA;RNA RT-PCR;SEQ - - LMNA 1 Johan den Dunnen