Variant #0000016802 (NC_000008.10:g.145740367del, NM_004260.3:c.1573del (RECQL4))

Chromosome 8
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.145740367del
DNA change (hg38) g.144514983del
Published as -
ISCN -
DB-ID RECQL4_000013 See all 5 reported entries
Variant remarks 1 Finnish family (com-het) with RAPADILINO syndrome
Reference PubMed: Siitonen et al. 2009
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00024 View details
Owner Anne Polvi
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Anne Polvi
Date created 2012-12-10 17:19:31 +01:00 (CET)
Date last edited 2020-06-25 11:27:33 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RECQL4 NM_004260.3 +?/+? 09 c.1573del r.(?) p.(Cys525Alafs*33)


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