Variant #0000652481 (NC_000008.10:g.27634402C>T, NM_001017420.2:c.577C>T (ESCO2))

Individual ID 00294624
Chromosome 8
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.27634402C>T
DNA change (hg38) g.27776885C>T
Published as -
ISCN -
DB-ID ESCO2_000043 See all 3 reported entries
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs143539004
Origin Germline
Segregation -
Frequency 1/2795 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00073 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2022-02-16 06:54:56 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ESCO2 NM_001017420.2 ?/. - c.577C>T r.(?) p.(Arg193Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295792 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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