Variant #0000149000 (NC_000017.10:g.73625173A>G, RECQL5(NM_004259.6):c.2330T>C)

Individual ID 00090726
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.73625173A>G
DNA change (hg38) g.75629093A>G
Published as -
ISCN -
DB-ID RECQL5_000023
Variant remarks -
Reference Thibodeau lab (Mayo Clinic)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00049 View details
Owner Melissa DeRycke
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RECQL5 NM_004259.6 ./. - c.2330T>C r.(?) p.(Leu777Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090871 DNA SEQ-NG-I blood - RECQL5 1 Melissa DeRycke