Genomic variant #0000040365

Individual ID 00019897
Chromosome 14
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.105352391G>C
DNA change (hg38) g.104886054G>C
Published as Pro653Pro
ISCN -
DB-ID CEP170B_000001
Variant remarks -
Reference PubMed: Gilissen 2014
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marianne Vos (LOVD-team)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CEP170B NM_001112726.2 -?/. - c.1959G>C - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019890 DNA SEQ - - ATP7B, CEP170B 2 Marianne Vos (LOVD-team)