Variant #0000477900 (NC_000006.11:g.88239344del, NM_020320.3:c.795del (RARS2))

Individual ID 00234052
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.88239344del
DNA change (hg38) g.87529626del
Published as 795delA
ISCN -
DB-ID RARS2_000029
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Carolina Courage
Database submission license No license selected
Created by Carolina Courage
Date created 2019-05-04 20:05:02 +02:00 (CEST)
Date last edited 2020-06-19 15:22:51 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RARS2 NM_020320.3 +/. 10 c.795del r.(?) p.(Glu265Aspfs*16)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000235151 DNA PCR;SEQ-NG - - - 2 Carolina Courage


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