Genomic variant #0000287503

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.241677035T>A
DNA change (hg38) -
Published as FH(NM_000143.3):c.268-22A>T (p.?)
ISCN -
DB-ID FH_000160 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02177 View details
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 -/. - c.268-22A>T benign r.(=) p.(=) - -