Genomic variant #0000116133

Individual ID 00072580
Chromosome 1
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.241680259T>A
DNA change (hg38) g.241516959T>A
Published as IVS2 222A/T
ISCN -
DB-ID FH_000011
Variant remarks -
Reference PubMed: Ylisaukko-oja
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 -/- 2i c.267+223A>T - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072737 DNA SEQ - - FH 1 Jean-Pierre Bayley