Genomic variant #0000576211

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48341183G>A
DNA change (hg38) -
Published as FTSJ1(NM_012280,NM_177439,NM_001282157):c.957+1G>A (r.spl?)
ISCN -
DB-ID FTSJ1_000026
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FTSJ1 NM_012280.2 +?/. - c.957+1G>A likely pathogenic r.spl? p.?