Variant ID | 24567 |
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Entrez Gene ID | 118427 |
Gene | OLFM3 (GeneCards) |
Location | hg19 1:102647817-102647817
hg38 1:102182261-102182261 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000001.10:g.102647817 T>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 | 249250621 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.3133 |
CADD Raw score (version 1.3) | -0.175981 (Deleterious) |
FATHMM raw prediction score | 0.0724 (Tolerated) |
Deleterious probability by DeFine | 0.1356 (Neutral) |
Entrez Gene ID | 118427 (NCBI Gene) |
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Official Gene Symbol | OLFM3 (GeneCards) |
Number of variants in OLFM3 in this database | 9 (view all the variants) |
Full name | olfactomedin 3 |
Band | 1p21.1 |
Other IDs | Vega: OTTHUMG00000010941 OMIM: 607567 HGNC: HGNC:17990 Ensembl: ENSG00000118733 |
Other names | NOE3, NOELIN3, OPTIMEDIN |
Summary | None |
Individual ID | 29217587.03 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |