Genomic variant #0000320197

Chromosome 13
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.100637710C>T
DNA change (hg38) -
Published as ZIC2(NM_007129.4):c.1373C>T (p.A458V)
ISCN -
DB-ID ZIC2_000012
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) 0.00011 View details
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Type/DNA     
ZIC2 NM_007129.3 -?/. - c.1373C>T likely benign r.(?) p.(Ala458Val) -