Genomic variant #0000169376

Individual ID 00104025
Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.64981765G>A
DNA change (hg38) g.64947862G>A
Published as NM_001797.3(CDH11):c.2132C>T p.(Ala711Val)
ISCN -
DB-ID CDH11_000001
Variant remarks variant could not be associated with disease phenotype
Reference PubMed: Vogelaar 2017, Journal: Vogelaar 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marjolijn JL Ligtenberg




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CDH11 NM_001797.2 ./. - c.2132C>T - r.(?) p.(Ala711Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104496 DNA SEQ-NG - - - 8 Marjolijn JL Ligtenberg