Genomic variant #0000549614

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.100635025_100635036del
DNA change (hg38) -
Published as ZIC2(NM_007129.4):c.707_718delACCACCACCACC (p.H236_H239del)
ISCN -
DB-ID ZIC2_000029
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     

Type/DNA     
ZIC2 NM_007129.3 -?/. - c.707_718del likely benign r.(?) p.(His236_His239del) -