Genomic variant #0000116130

Individual ID 00073035
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.241680493_241680494del
DNA change (hg38) g.241517193_241517194del
Published as p.Glu43fs
ISCN -
DB-ID FH_000147
Variant remarks FH enzymatic activity 43%
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Audrey Remenieras
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 +/+ 2 c.256_257del r.(?) p.(Glu86Thrfs*8) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073192 DNA SEQ - - FH 1 Audrey Remenieras