Variant #0000596020 (NC_000023.10:g.(154227876_154250684)_(154250828_?)del, F8(NM_000132.3):c.(?_-1)_(143+1_144-1)del)

Individual ID 00264282
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method EAHAD-CFDB
Clinical classification unclassified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(154227876_154250684)_(154250828_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID F8_001843 See all 41 reported entries
Variant remarks -
Reference PubMed: Johnsen et al., 2017
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 +?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265402 DNA SEQ-NG-I - - F8 1 Geoffrey Kemball-Cook