Genomic variant #0000313147

Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.100635028_100635036del
DNA change (hg38) -
Published as ZIC2(NM_007129.4):c.710_718delACCACCACC (p.H237_H239del)
ISCN -
DB-ID ZIC2_000010 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_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Type/DNA     
ZIC2 NM_007129.3 ?/. - c.710_718del VUS r.(?) p.(His237_His239del) -