Variant #0000116121 (NC_000001.10:g.241680610G>T, FH(NM_000143.3):c.139C>A)

Individual ID 00072572
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.241680610G>T
DNA change (hg38) g.241517310G>T
Published as Gln4X, Q4X
ISCN -
DB-ID FH_000003
Variant remarks not found in 300 chrom
Reference PubMed: Tomlinson, PubMed: Chuang
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jean-Pierre Bayley
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Jean-Pierre Bayley
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 +?/+ 2 c.139C>A r.(?) p.(Gln47Lys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072729 DNA SEQ;SSCA;CSGE - - FH 1 Jean-Pierre Bayley