Variant #0000553367 (NC_000014.8:g.92343894G>A, FBLN5(NM_006329.3):c.1122C>T)

Chromosome 14
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.92343894G>A
DNA change (hg38) g.91877550G>A
Published as FBLN5(NM_006329.4):c.1122C>T (p.Y374=)
ISCN -
DB-ID FBLN5_000016 See all 3 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) 0.01678 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     
FBLN5 NM_006329.3 -/. - c.1122C>T r.(?) p.(Tyr374=)