Variant #0000408195 (NC_000008.10:g.27634242del, NM_001017420.2:c.417del (ESCO2))

Individual ID 00183239
Chromosome 8
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.27634242del
DNA change (hg38) g.27776725del
Published as 417delA
ISCN -
DB-ID ESCO2_000049
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Elisa Adele Colombo
Database submission license No license selected
Created by Elisa Adele Colombo
Date created 2018-10-17 14:37:58 +02:00 (CEST)
Date last edited 2018-10-21 16:00:41 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ESCO2 NM_001017420.2 +?/. 3 c.417del r.(417del) p.(Lys139Asnfs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184196 DNA SEQ;SEQ-NG white blood cells - ESCO2 1 Elisa Adele Colombo


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