Variant #0000250061 (NC_000019.9:g.41118056A>G, LTBP4(NM_003573.2):c.2347A>G)

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.41118056A>G
DNA change (hg38) g.40612150A>G
Published as LTBP4(NM_001042544.1):c.2458A>G (p.T820A), LTBP4(NM_003573.2):c.2347A>G (p.T783A)
ISCN -
DB-ID LTBP4_000020 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.43997 View details
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.2347A>G r.(?) p.(Thr783Ala)