Genomic variant #0000063014

Individual ID 00035819
Chromosome 1
Allele Parent #1
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) g.241513735T>A
Published as -
ISCN -
DB-ID FH_000160 See all 4 reported entries
Variant remarks in combination with p.Arg233His (path. Mut.)
Reference -
ClinVar ID -
dbSNP ID rs2275162
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02177 View details
Owner Andreas Laner




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 - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000035889 DNA SEQ - - FH 1 Andreas Laner