Variant #0000283601 (NC_000019.9:g.41114269T>A, LTBP4(NM_003573.2):c.1390T>A)

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.41114269T>A
DNA change (hg38) g.40608363T>A
Published as LTBP4(NM_003573.2):c.1390T>A (p.S464T)
ISCN -
DB-ID LTBP4_000016
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) 0.01228 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.1390T>A r.(?) p.(Ser464Thr)