Variant #0000084664 (NC_000016.9:g.68771373C>G, CDH1(NM_004360.3):c.48+7C>G)

Individual ID 00054744
Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.68771373C>G
DNA change (hg38) g.68737470C>G
Published as -
ISCN -
DB-ID CDH1_000133
Variant remarks conservation, in silico analysis: IARC-2 likely not pathogenic
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pränatalmedizin & Genetik MVZ Nürnberg
Database submission license No license selected
Created by Pränatalmedizin & Genetik MVZ Nürnberg
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDH1 NM_004360.3 -?/. 1i c.48+7C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054693 DNA SEQ-NG peripheral blood - CDH1 1 Pränatalmedizin & Genetik MVZ Nürnberg