Variant #0000714892 (NC_000016.9:g.65038609C>G, NM_001797.2:c.164G>C (CDH11))

Individual ID 00329103
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.65038609C>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID CDH11_000006
Variant remarks -
Reference PubMed: Li 2021, Journal: Li 2021
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Dong Li
Database submission license No license selected
Created by Dong Li
Date created 2021-02-03 21:15:50 +01:00 (CET)
Date last edited 2021-04-06 19:23:55 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDH11 NM_001797.2 +/. - c.164G>C r.(?) p.(Trp55Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000330321 DNA SEQ-NG-I - - - 1 Dong Li


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