Genomic variant #0000074571

Individual ID 00046592
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.48336511G>C
DNA change (hg38) g.48478123G>C
Published as -
ISCN -
DB-ID FTSJ1_000003 See all 2 reported entries
Variant remarks variant functionally analysed
Reference PubMed: Guy 2015, Journal: Guy 2015
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 Marie Shaw




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FTSJ1 NM_012280.2 +/. 2 c.76G>C pathogenic (recessive) r.(?) p.(Ala26Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046701 DNA SEQ - - FTSJ1 1 Marie Shaw