Variant #0000658050 (NC_000017.10:g.17129618C>A, FLCN(NM_144997.5):c.268G>T)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.17129618C>A
DNA change (hg38) g.17226304C>A
Published as FLCN(NM_144997.5):c.268G>T (p.A90S)
ISCN -
DB-ID FLCN_000166 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) 0.00036 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 -?/. - c.268G>T r.(?) p.(Ala90Ser)