Variant #0000116117 (NC_000001.10:g.241682918C>T, FH(NM_000143.3):c.105G>A)

Individual ID 00073010
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.241682918C>T
DNA change (hg38) g.241519618C>T
Published as c.-25G>A
ISCN -
DB-ID FH_000133
Variant remarks FH enzymatic activity normal
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00064 View details
Owner Audrey Remenieras
Database submission license No license selected
Created by Audrey Remenieras
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 ?/-? 1 c.105G>A r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073167 DNA SEQ - - FH 1 Audrey Remenieras