Variant #0000931574 (NC_000012.11:g.96986372del, NM_001306084.2:c.3317del (C12orf55))

Individual ID 00435416
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.96986372del
DNA change (hg38) g.96592594del
Published as -
ISCN -
DB-ID C12orf55_000004
Variant remarks -
Reference PubMed: Tian 2023
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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 2023-07-24 16:39:11 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C12orf55 NM_001306084.2 +/. - c.3317del r.(?) p.(Phe1106SerfsTer19)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000436896 DNA SEQ;SEQ-NG - WES - 1 Johan den Dunnen


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