Genomic variant #0000335964

Chromosome X
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.152097153del
DNA change (hg38) -
Published as ZNF185(NM_001178106.1):c.861delC (p.(Leu288Ter), p.(Leu289Ter))
ISCN -
DB-ID ZNF185_000055
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.862del likely benign r.(?) p.(Leu288*)