Genomic variant #0000116141

Individual ID 00072587
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.241676980G>A
DNA change (hg38) g.241513680G>A
Published as Arg58X, R58X, AAAins435
ISCN -
DB-ID FH_000014 See all 10 reported entries
Variant remarks UK, USA, not found in 620 chrom
Reference PubMed: Tomlinson, 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 +?/+ 3 c.301C>T - r.(?) p.(Arg101*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072744 DNA SEQ;SSCA;CSGE - - FH 1 Jean-Pierre Bayley