Genomic variant #0000149032

Individual ID 00090758
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.73654479C>G
DNA change (hg38) g.75658399C>G
Published as -
ISCN -
DB-ID RECQL5_000031
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 ./. - c.1048G>C - r.(?) p.(Ala350Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090903 DNA SEQ-NG-I blood - RECQL5 1 Melissa DeRycke