Variant #0000116255 (NC_000001.10:g.241667566C>T, FH(NM_000143.3):c.905-21G>A)

Individual ID 00073002
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.241667566C>T
DNA change (hg38) g.241504266C>T
Published as p.?
ISCN -
DB-ID FH_000128
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00022 View details
Owner Audrey Remenieras
Database submission license No license selected
Created by Audrey Remenieras
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 -/-? 6i c.905-21G>A r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073159 DNA SEQ - - FH 4 Audrey Remenieras