| Variant ID | 24636 |
|---|---|
| Entrez Gene ID | 55061 |
| Gene | SUSD4 (GeneCards) |
| Location | hg19 1:223561490-223561490
hg38 1:223388148-223388148 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000001.10:g.223561490 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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) | 0.0001 |
|---|---|
| EIGEN score | -0.6356 |
| CADD Raw score (version 1.3) | -0.602809 (Deleterious) |
| FATHMM raw prediction score | 0.0517 (Tolerated) |
| Deleterious probability by DeFine | 0.0836 (Neutral) |
| Entrez Gene ID | 55061 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SUSD4 (GeneCards) |
| Number of variants in SUSD4 in this database | 2 (view all the variants) |
| Full name | sushi domain containing 4 |
| Band | 1q41 |
| Other IDs | Vega: OTTHUMG00000037936 OMIM: 615827 HGNC: HGNC:25470 Ensembl: ENSG00000143502 |
| Other names | PRO222 |
| Summary | None |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |