Variant #0000666094 (NC_000001.10:g.(154164240_154164342)ins(6), F8(NM_000132.3):c.(2114-4391_2114-4289)ins(6))

Individual ID 00301618
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.(154164240_154164342)ins(6)
DNA change (hg38) g.(154935965_154936067)ins(6)
Published as (CA)24
ISCN -
DB-ID F8_002602
Variant remarks -
Reference PubMed: Lalloz et al., 1991
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/159 chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
F8 NM_000132.3 -/. 13i c.(2114-4391_2114-4289)ins(6) r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000302743 DNA PAGE;PCR - - F8 1 Johan den Dunnen