Genomic variant #0000116123

Individual ID 00072574
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.241680597C>T
DNA change (hg38) g.241517297C>T
Published as Arg8Glu
ISCN -
DB-ID FH_000005
Variant remarks -
Reference PubMed: Kiuru
ClinVar ID -
dbSNP ID -
Origin Somatic
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 ?/+? 2 c.152G>A - r.(?) p.(Arg51Gln) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072731 DNA SEQ - - FH 1 Jean-Pierre Bayley