Genomic variant #0000574238

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.152687075A>T
DNA change (hg38) -
Published as ZFP92(NM_001136273.1):c.1240A>T (p.S414C)
ISCN -
DB-ID ZFP92_000008
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ZFP92 NM_001136273.1 ?/. - c.1240A>T VUS r.(?) p.(Ser414Cys)