Variant #0000872781 (NC_000002.11:g.27601023A>G, NM_144631.5:c.1015T>C (ZNF513))

Individual ID 00413761
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.27601023A>G
DNA change (hg38) -
Published as c.1015T>C [p.C339R]
ISCN -
DB-ID ZNF513_000001 See all 3 reported entries
Variant remarks -
Reference PubMed: Li 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00018 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-07-22 03:34:11 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZNF513 NM_144631.5 +/. 4 c.1015T>C r.(?) p.(Cys339Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415041 DNA ? - - ZNF513 1 LOVD


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