Genomic variant #0000001008

Individual ID 00000087
Chromosome 4
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.79400782del
DNA change (hg38) g.78479628del
Published as -
ISCN -
DB-ID FRAS1_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FRAS1 NM_025074.6 ?/. - c.8353del r.(?) p.(Val2785Trpfs*33)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000087 DNA SEQ-NG - - AHI1, ATP7B, BTD, CYP21A2, ETFB, FRAS1, GLB1, IGHMBP2, NHLRC1, SERPINA1, SLC26A2 11 Global Variome, with Curator vacancy