Genomic variant #0000116116

Individual ID 00072789
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(241680617_241682890)_(241683085_?)del
DNA change (hg38) -
Published as Deletion of Exon 1
ISCN -
DB-ID FH_000111
Variant remarks -
Reference PubMed: Ahvenainen
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 c.(?_-63)_(132+1_133-1)del - r.spl? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072946 DNA SEQ - - FH 1 Jean-Pierre Bayley