Genomic variant #0000408017

Individual ID 00183090
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48307157_48336450del
DNA change (hg38) -
Published as -
ISCN -
DB-ID FTSJ1_000019
Variant remarks -
Reference PubMed: Froyen 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FTSJ1 NM_012280.2 +/. _1_13 c.(?_-27715)_(15_*1370)del pathogenic (recessive) r.0? p.0?
SLC38A5 NM_033518.2 +/. _1_17_ c.0 VUS r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184048 DNA arrayCGH;PCR - - FTSJ1 1 Johan den Dunnen