Genomic variant #0000400766

Individual ID 00177001
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.48337003A>G
DNA change (hg38) g.48478615A>G
Published as IVS3-2A>G
ISCN -
DB-ID FTSJ1_000018
Variant remarks -
Reference PubMed: Ramser 2004
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 +/. 3i c.192-2A>G pathogenic (recessive) r.192_282del p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177892 DNA;RNA RT-PCR;SEQ - - FTSJ1 1 Johan den Dunnen