Variant #0000089352 (NC_000019.9:g.12918026dup, NM_006397.2:c.206dup (RNASEH2A))

Individual ID 00058790
Chromosome 19
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.12918026dup
DNA change (hg38) g.12807212dup
Published as -
ISCN -
DB-ID RNASEH2A_000002 See all 4 reported entries
Variant remarks Compound heterozygous mutation with c.323G>A
Reference Prof. YJ Crow, Univ Manchester, paper under review
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-11-07 12:51:52 +01:00 (CET)
Date last edited 2020-07-15 12:39:06 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RNASEH2A NM_006397.2 +?/+? 3 c.206dup r.(?) p.(Thr70Aspfs*50)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058752 DNA SEQ - - RNASEH2A 2 Johan den Dunnen


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