Genomic variant #0000116231

Individual ID 00072650
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Probably affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.241671943C>T
DNA change (hg38) g.241508643C>T
Published as Arg190His, R190H, R233H
ISCN -
DB-ID FH_000048 See all 9 reported entries
Variant remarks Dominant negative mutation, UK, USA, Spain, not found in 720 chrom
Reference PubMed: Pollard
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 ?/+? 5 c.698G>A r.(?) p.(Arg233His) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072807 DNA SEQ - - FH 1 Jean-Pierre Bayley