Variant #0000343241 (NC_000023.10:g.64141723G>A, ZC4H2(NM_018684.3):c.199C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.64141723G>A
DNA change (hg38) g.64921843G>A
Published as -
ISCN -
DB-ID ZC4H2_000006 See all 2 reported entries
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_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZC4H2 NM_018684.3 +/. - c.199C>T r.(?) p.(Arg67Ter)