Genomic variant #0000148989

Individual ID 00090715
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.73623557C>T
DNA change (hg38) g.75627477C>T
Published as -
ISCN -
DB-ID RECQL5_000039
Variant remarks -
Reference Thibodeau lab (Mayo Clinic)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Melissa DeRycke




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RECQL5 NM_004259.6 ./. - c.2921G>A - r.(?) p.(Arg974Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090860 DNA SEQ-NG-I blood - RECQL5 1 Melissa DeRycke