Genomic variant #0000372268

Individual ID 00165680
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.241676961T>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID FH_000217
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gemeinschaftspraxis für Humangenetik Dresden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 +?/. - c.320A>T - r.(?) p.(Asn107Ile) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000166559 DNA SEQ - - FH 1 Gemeinschaftspraxis für Humangenetik Dresden