Variant #0000078711 (NC_000008.10:g.145742788G>C, NC_000008.10(NM_004260.3):c.213+10C>G (RECQL4))

Individual ID 00049880
Chromosome 8
Allele Maternal (inferred)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.145742788G>C
DNA change (hg38) g.144517404G>C
Published as -
ISCN -
DB-ID RECQL4_000043
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency 1/45 patients
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Sabina Gallati, Prof.
Database submission license No license selected
Created by Sabina Gallati, Prof.
Date created 2015-09-13 22:09:40 +02:00 (CEST)
Date last edited 2016-01-26 03:26:04 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RECQL4 NM_004260.3 -?/. 3i c.213+10C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049801 DNA SEQ EDTA blood - RECQL4 4 Sabina Gallati, Prof.


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