Variant #0000649044 (NC_000015.9:g.40702898G>A, IVD(NM_002225.3):c.367G>A)

Individual ID 00291187
Chromosome 15
Allele Parent #1
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.40702898G>A
DNA change (hg38) g.40410699G>A
Published as -
ISCN -
DB-ID IVD_000031
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs142761835
Origin Germline
Segregation -
Frequency 1/2795 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 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)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IVD NM_002225.3 +?/. - c.367G>A r.(?) p.(Gly123Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292355 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq