Variant ID | 7394 |
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Entrez Gene ID | 403315 |
Gene | FAM92A1P2 (GeneCards) |
Location | hg19 4:183968965-183968965
hg38 4:183047812-183047812 |
Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000004.11:g.183968965 C>T (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 | 191154276 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.4802 |
CADD Raw score (version 1.3) | -0.118034 (Deleterious) |
FATHMM raw prediction score | 0.04473 (Tolerated) |
Deleterious probability by DeFine | 0.1752 (Neutral) |
Entrez Gene ID | 403315 (NCBI Gene) |
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Official Gene Symbol | FAM92A1P2 (GeneCards) |
Number of variants in FAM92A1P2 in this database | 1 (view all the variants) |
Full name | family with sequence similarity 92, member A3 |
Band | 4q35.1 |
Other IDs | HGNC: HGNC:32287 Ensembl: ENSG00000230219 |
Other names | FAM92A3 |
Summary | None |
Individual ID | 29217584.23 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Female Patient |
Phenotype | 3 |
Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
OMIM ID | 278700 |
Pubmed ID | 29217584 |
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Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
Journal | Science |
Publication date | 2018.02 |
Disease | Cockayne syndrome Xeroderma Pigmentosum |
Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |