Variant #0000132265 (NC_000019.9:g.41111560T>G, LTBP4(NM_003573.2):c.780+2T>G)

Individual ID 00081468
Chromosome 19
Allele Both (homozygous)
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.41111560T>G
DNA change (hg38) g.40605654T>G
Published as -
ISCN -
DB-ID LTBP4_000006
Variant remarks not found in 100 controls
Reference PubMed: Callewaert 2013, Journal: Callewaert 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Bert Callewaert
Database submission license No license selected
Created by Bert Callewaert
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LTBP4 NM_003573.2 +/. - c.780+2T>G r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081598 DNA SEQ - - LTBP4 1 Bert Callewaert