Genomic variant #0000116131

Individual ID 00072579
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.241680481C>G
DNA change (hg38) g.241517181C>G
Published as (IVS2) 138+1G>C
ISCN -
DB-ID FH_000010
Variant remarks -
Reference PubMed: Wei
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+1G>C - r.spl? p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072736 DNA SEQ - - FH 1 Jean-Pierre Bayley