Variant #0000153949 (NC_000023.10:g.(154176183_154182166)_(154250863_?)del, F8(NM_000132.3):c.(?_-36)_(1903+1_1904-1)del)

Individual ID 00094999
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.(154176183_154182166)_(154250863_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID F8_001865
Variant remarks -
Reference PubMed: Lannoy et al., 2009
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Geoffrey Kemball-Cook
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
F8 NM_000132.3 ./. _12i c.(?_-36)_(1903+1_1904-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095398 DNA MLPA - - F8 1 Geoffrey Kemball-Cook