Variant #0001045343 (NC_000016.9:g.2070541G>T, NM_001099456.2:c.419G>T (NPW))

Individual ID 00465864
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.2070541G>T
DNA change (hg38) g.2020540G>T
Published as -
ISCN -
DB-ID NPW_000001
Variant remarks -
Reference PubMed: Iqbal 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-06-11 21:32:32 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NPW NM_001099456.2 +?/. - c.419G>T r.(?) p.(Arg140Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000467515 DNA arraySNP;SEQ;SEQ-NG - WES - 8 Johan den Dunnen


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