Variant #0000647651 (NC_000001.10:g.243434337C>T, NM_006642.3:c.278C>T (SDCCAG8))

Individual ID 00289794
Chromosome 1
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.243434337C>T
DNA change (hg38) g.243271035C>T
Published as -
ISCN -
DB-ID SDCCAG8_000008 See all 5 reported entries
Variant remarks 19 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs140413256
Origin Germline
Segregation -
Frequency 19/2795 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.001 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 2024-04-10 17:40:24 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SDCCAG8 NM_006642.3 ?/. - c.278C>T r.(?) p.(Pro93Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290962 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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