Variant #0000872203 (NC_000012.11:g.110841437C>T, NM_016238.2:c.98G>A (ANAPC7))

Individual ID 00326917
Chromosome 12
Allele Both (homozygous)
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.110841437C>T
DNA change (hg38) -
Published as chr12:109325820C>T
ISCN -
DB-ID ANAPC7_000002
Variant remarks -
Reference PubMed: Najmabadi 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.03036 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-07-13 11:09:03 +02:00 (CEST)
Date last edited 2024-12-17 13:14:10 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANAPC7 NM_016238.2 ?/. - c.98G>A r.(?) p.(Ser33Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000328130 DNA SEQ;SEQ-NG - WES - 5 Johan den Dunnen


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