Variant #0000222093 (NC_000008.10:g.27634256dup, NM_001017420.2:c.431dup (ESCO2))

Individual ID 00132072
Chromosome 8
Allele Maternal (confirmed)
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.27634256dup
DNA change (hg38) g.27776739dup
Published as -
ISCN -
DB-ID ESCO2_000039
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Karina Silveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Karina Silveira
Date created 2017-10-18 18:43:44 +02:00 (CEST)
Date last edited 2017-10-22 13:34:23 +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.431dup r.(?) p.(Leu144Phefs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000132911 DNA SEQ-NG-I - - ESCO2 2 Karina Silveira


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