Variant #0001024705 (NC_000003.11:g.119367043A>G, NM_001369919.2:c.1073T>C (POPDC2))

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.119367043A>G
DNA change (hg38) g.119648196A>G
Published as POPDC2(NM_001369919.2):c.1073T>C (p.M358T)
ISCN -
DB-ID POPDC2_000011
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2025-02-07 18:57:27 +01:00 (CET)
Date last edited 2025-07-07 12:21:07 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POPDC2 NM_001369919.2 -?/. - c.1073T>C r.(?) p.(Met358Thr)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.