Genomic variant #0000335967

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.152113989_152113993del
DNA change (hg38) -
Published as ZNF185(NM_001178106.1):c.1480_1484del (p.(Arg495GlufsTer9))
ISCN -
DB-ID ZNF185_000060
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     
ZNF185 NM_001178106.1 ?/. - c.1483_1487del VUS r.(?) p.(Arg495Glufs*9)