Variant ID | 28352 |
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Entrez Gene ID | 1000 |
Gene | CDH2 (GeneCards) |
Location | hg19 18:27642398-27642398
hg38 18:30062433-30062433 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000018.9:g.27642398 G>C (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NA |
mRNA length | NA |
Reference length | 78077248 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.3718 |
CADD Raw score (version 1.3) | -0.429793 (Deleterious) |
FATHMM raw prediction score | 0.06127 (Tolerated) |
Deleterious probability by DeFine | 0.0833 (Neutral) |
Entrez Gene ID | 1000 (NCBI Gene) |
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Official Gene Symbol | CDH2 (GeneCards) |
Number of variants in CDH2 in this database | 33 (view all the variants) |
Full name | cadherin 2 |
Band | 18q12.1 |
Other IDs | Vega: OTTHUMG00000059940 OMIM: 114020 HGNC: HGNC:1759 Ensembl: ENSG00000170558 |
Other names | CDHN, NCAD, CD325, CDw325 |
Summary | This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015] |
Individual ID | 29217587.02 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |