Genomic variant #0000116168

Individual ID 00072604
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.241676902del
DNA change (hg38) g.241513602del
Published as IVS3+1delG, Splice site
ISCN -
DB-ID FH_000022
Variant remarks -
Reference PubMed: Badeloe
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jean-Pierre Bayley




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 +?/+? 3i c.378+1del - r.spl? p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072761 DNA SEQ - - FH 1 Jean-Pierre Bayley