Genomic variant #0000149017

Individual ID 00090743
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.73626264_73626266del
DNA change (hg38) g.75630184_75630186del
Published as 1812delAAG
ISCN -
DB-ID RECQL5_000011
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) Variant not found in online data sets
Owner Melissa DeRycke




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RECQL5 NM_004259.6 ?/. 14 c.1810_1812del - r.spl? p.(Lys604del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090888 DNA SEQ-NG-I blood - RECQL5 1 Melissa DeRycke