Variant #0000480640 (NC_000023.10:g.138612978del, F9(NM_000133.3):c.55del)

Individual ID 00235538
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method EAHAD-CFDB
Clinical classification unclassified
DNA change (genomic) (Relative to hg19 / GRCh37) g.138612978del
DNA change (hg38) g.139530819del
Published as -
ISCN -
DB-ID F9_000030 See all 2 reported entries
Variant remarks -
Reference PubMed: Ivaskevicius et al., 2001
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
Database submission license No license selected
Created by Geoffrey Kemball-Cook
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
F9 NM_000133.3 +/+? 1 c.55del r.(?) p.(Leu19Phefs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000236642 DNA PCR;SEQ - - F9 1 Geoffrey Kemball-Cook