Variant ID | 27285 |
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Entrez Gene ID | 23705 |
Gene | CADM1 (GeneCards) |
Location | hg19 11:115152276-115152276
hg38 11:115281556-115281556 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000011.9:g.115152276 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 | 135006516 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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CADD Raw score (version 1.3) | -0.689242 (Deleterious) |
FATHMM raw prediction score | 0.46809 (Tolerated) |
Deleterious probability by DeFine | 0.7404 (Deleterious) |
Entrez Gene ID | 23705 (NCBI Gene) |
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Official Gene Symbol | CADM1 (GeneCards) |
Number of variants in CADM1 in this database | 10 (view all the variants) |
Full name | cell adhesion molecule 1 |
Band | 11q23.3 |
Other IDs | Vega: OTTHUMG00000168202 OMIM: 605686 HGNC: HGNC:5951 Ensembl: ENSG00000182985 |
Other names | BL2, ST17, IGSF4, NECL2, RA175, TSLC1, IGSF4A, Necl-2, SYNCAM, sgIGSF, sTSLC-1, synCAM1 |
Summary | None |
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 |