Genomic variant #0000116169

Individual ID 00072603
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.241675465T>A
DNA change (hg38) g.241512165T>A
Published as (IVS3) IVS3-22A>T
ISCN -
DB-ID FH_000021
Variant remarks -
Reference PubMed: Barker
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.379-22A>T - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072760 DNA SEQ - - FH 1 Jean-Pierre Bayley