Genomic variant #0000324557

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.4802601G>A
DNA change (hg38) -
Published as ZNF500(NM_021646.1):c.1219C>T (p.(Arg407Trp))
ISCN -
DB-ID ZNF500_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ZNF500 NM_021646.1 -?/. - c.1219C>T likely benign r.(?) p.(Arg407Trp)
C16orf71 NM_139170.2 -?/. - c.*3885G>A likely benign r.(=) p.(=)