Variant #0000808873 (NC_000019.9:g.41114407C>T, LTBP4(NM_003573.2):c.1414C>T)

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.41114407C>T
DNA change (hg38) -
Published as LTBP4(NM_001042544.1):c.1525C>T (p.R509C)
ISCN -
DB-ID LTBP4_000058
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) 0.00061 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LTBP4 NM_003573.2 ?/. - c.1414C>T r.(?) p.(Arg472Cys)