Variant #0000075887 (NC_000023.10:g.154250869G>A, F8(NM_000132.3):c.-42C>T)

Individual ID 00047118
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method EAHAD-CFDB
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.154250869G>A
DNA change (hg38) g.155022594G>A
Published as -
ISCN -
DB-ID F8_000034
Variant remarks Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference PubMed: Lombardi et al., 2004
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 +/+? 1 c.-42C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047217 DNA PCR;SEQ - - F8 1 Geoffrey Kemball-Cook