Variant #0000649045 (NC_000015.9:g.40707653C>T, IVD(NM_002225.3):c.941C>T)

Individual ID 00291188
Chromosome 15
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.40707653C>T
DNA change (hg38) g.40415454C>T
Published as -
ISCN -
DB-ID IVD_000002 See all 5 reported entries
Variant remarks 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs28940889
Origin Germline
Segregation -
Frequency 2/2794 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00066 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 2020-10-30 12:38:50 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IVD NM_002225.3 +/. - c.941C>T r.(?) p.(Ala314Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292356 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq