Genomic variant #0000074570

Individual ID 00046591
Chromosome X
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48340873G>A
DNA change (hg38) -
Published as S246S
ISCN -
DB-ID FTSJ1_000002
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 families
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00151 View details
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FTSJ1 NM_012280.2 -?/. 10 c.738G>A - r.(?) p.(Ser246=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046700 DNA SEQ - - FTSJ1 1 Lucy Raymond