Variant #0000170459 (NC_000023.10:g.154116613_154504090inv, F8(NM_000132.3):c.-253263_6429+7739inv)

Individual ID 00104712
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.154116613_154504090inv
DNA change (hg38) g.154888338_155275815delinsGAAAAAAAAAAAAAAAAGATGAAGTCATGGCAAAGGAATAGAGGAGTCATCCTGAAAGATTGCCAAATTTGGAAAAATTGCCTCAATAAAATATAGATACTCCTCACCTTCTGATGGGGCTAT
Published as -
ISCN -
DB-ID F8_001968
Variant remarks only 1 inversion breakpoint sequenced
Reference PubMed: Naylor 1996
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
F8 NM_000132.3 +/. 22i c.-253263_6429+7739inv r.6430_*1809delinsNC_000023.10:g.(154504612_?) p.Val2144_2351Tyrdelins?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105184 DNA;RNA PCR;RT-PCR;SEQ;Southern - - F8 3 Johan den Dunnen