Genomic variant #0000154084

Individual ID 00095117
Chromosome 4
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.79362314A>C
DNA change (hg38) g.78441160A>C
Published as -
ISCN -
DB-ID FRAS1_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Karen Stals




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FRAS1 NM_025074.6 +/. 40i c.5530-2A>C likely pathogenic r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095515 DNA SEQ;SEQ-NG - - - 2 Karen Stals