Variant ID | 25782 |
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Entrez Gene ID | 101928858 |
Gene | LOC101928858 (GeneCards) |
Location | hg19 5:67277647-67277647
hg38 5:67981819-67981819 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000005.9:g.67277647 C>G (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 | 180915260 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | 0.4733 |
CADD Raw score (version 1.3) | 0.576439 (Deleterious) |
FATHMM raw prediction score | 0.71734 (Tolerated) |
Deleterious probability by DeFine | 0.5628 (Deleterious) |
Entrez Gene ID | 101928858 (NCBI Gene) |
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Official Gene Symbol | LOC101928858 (GeneCards) |
Number of variants in LOC101928858 in this database | 6 (view all the variants) |
Full name | uncharacterized LOC101928858 |
Band | 5q13.1 |
Other IDs | Ensembl: ENSG00000249364 |
Other names | None |
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 |