Genomic variant #0000116112

Individual ID 00072570
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_241660857)_(241683085_?)del
DNA change (hg38) -
Published as Whole-gene deletion
ISCN -
DB-ID FH_000001 See all 6 reported entries
Variant remarks -
Reference PubMed: Alam
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 +?/+ 1_10 c.(?_-63)_(*271_?)del - r.? p.? 0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072727 DNA SEQ - - FH 1 Jean-Pierre Bayley