Variant #0000923141 (NC_000001.10:g.244217390A>G, NM_205768.2:c.314A>G (ZBTB18))

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.244217390A>G
DNA change (hg38) -
Published as ZBTB18(NM_006352.4):c.287A>G (p.D96G)
ISCN -
DB-ID ZBTB18_000028
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_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2023-04-16 21:50:28 +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     
ZBTB18 NM_205768.2 +?/. - c.314A>G r.(?) p.(Asp105Gly)


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