Variant #0001032978 (NC_000002.11:g.219516895G>A, NC_000002.11(NM_001105537.1):c.281-1646C>T (ZNF142))

Chromosome 2
Allele Unknown
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.219516895G>A
DNA change (hg38) -
Published as ZNF142(NM_001379659.1):c.409C>T (p.(Pro137Ser))
ISCN -
DB-ID ZNF142_000006
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-05-05 21:14:00 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZNF142 NM_001105537.1 ?/. - c.281-1646C>T r.(=) p.(=)


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