Variant #0000680078 (NC_000014.8:g.92349361C>T, FBLN5(NM_006329.3):c.799G>A)

Chromosome 14
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.92349361C>T
DNA change (hg38) -
Published as FBLN5(NM_006329.3):c.799G>A (p.G267S), FBLN5(NM_006329.4):c.799G>A (p.G267S)
ISCN -
DB-ID FBLN5_000006 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) 0.00027 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FBLN5 NM_006329.3 +?/. - c.799G>A r.(?) p.(Gly267Ser)