Genomic variant #0000400764

Individual ID 00176999
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.48337009C>T
DNA change (hg38) g.48478621C>T
Published as -
ISCN -
DB-ID FTSJ1_000016
Variant remarks -
Reference PubMed: Freude 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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 +/. - c.196C>T pathogenic (recessive) r.(?) p.(Gln66*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177890 DNA SEQ - - FTSJ1 1 Johan den Dunnen