Variant #0000567421 (NC_000019.9:g.41123095dup, LTBP4(NM_003573.2):c.3122_3124=)

Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41123095dup
DNA change (hg38) g.40617190dup
Published as LTBP4(NM_001042544.1):c.3236dupG (p.Y1080Lfs*17), LTBP4(NM_003573.2):c.3125dupG
ISCN -
DB-ID LTBP4_000023 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LTBP4 NM_003573.2 -/. - c.3122_3124= r.(=) p.(Gln1041=)