Genomic variant #0000116108

Individual ID 00072571
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.241683033G>A
DNA change (hg38) g.241519733G>A
Published as C>T -11 of ATG
ISCN -
DB-ID FH_000002 See all 4 reported entries
Variant remarks -
Reference PubMed: Lehtonen
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00097 View details
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.-11C>T - r.(=) p.(=) 0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072728 DNA DHPLC;SEQ - - FH 1 Jean-Pierre Bayley