Variant ID | 7456 |
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Entrez Gene ID | 7363 |
Gene | UGT2B4 (GeneCards) |
Location | hg19 4:70431121-70431121
hg38 4:69565403-69565403 |
Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000004.11:g.70431121 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 | 191154276 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.2584 |
CADD Raw score (version 1.3) | -0.120329 (Deleterious) |
FATHMM raw prediction score | 0.07989 (Tolerated) |
Deleterious probability by DeFine | 0.4921 (Neutral) |
Entrez Gene ID | 7363 (NCBI Gene) |
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Official Gene Symbol | UGT2B4 (GeneCards) |
Number of variants in UGT2B4 in this database | 2 (view all the variants) |
Full name | UDP glucuronosyltransferase family 2 member B4 |
Band | 4q13.3 |
Other IDs | Vega: OTTHUMG00000058891 OMIM: 600067 HGNC: HGNC:12553 Ensembl: ENSG00000156096 |
Other names | HLUG25, UDPGTH1, UGT2B11, UDPGT2B4, UDPGTh-1 |
Summary | None |
Individual ID | 29217584.24 (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; |