Genomic variant #0000116145

Individual ID 00073033
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.241676980G>A
DNA change (hg38) g.241513680G>A
Published as p.Arg58X
ISCN -
DB-ID FH_000014 See all 10 reported entries
Variant remarks FH enzymatic activity reduced
Reference PubMed: Pithukpakorn 2006
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.301C>T - r.(?) p.(Arg101*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073190 DNA SEQ - - FH 1 Audrey Remenieras