Genomic variant #0000116166

Individual ID 00073029
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.241676902_241676905delinsT
DNA change (hg38) g.241513602_241513605delinsT
Published as p.Glu83fs
ISCN -
DB-ID FH_000145 See all 2 reported entries
Variant remarks FH enzymatic activity 55%.
Splicesite mutation.
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 +/+ 3 c.376_378+1delinsA - r.spl? p.? 1 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073186 DNA SEQ - - FH 1 Audrey Remenieras