Variant ID | 21264 |
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Entrez Gene ID | 140836 |
Gene | BANF2 (GeneCards) |
Location | hg19 20:17861963-17861963
hg38 20:17881319-17881319 |
Disease | Asymptomatic |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000020.10:g.17861963 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 | 63025520 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.3926 |
CADD Raw score (version 1.3) | -0.113847 (Deleterious) |
FATHMM raw prediction score | 0.07794 (Tolerated) |
Deleterious probability by DeFine | 0.1986 (Neutral) |
Entrez Gene ID | 140836 (NCBI Gene) |
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Official Gene Symbol | BANF2 (GeneCards) |
Number of variants in BANF2 in this database | 6 (view all the variants) |
Full name | barrier to autointegration factor 2 |
Band | 20p12.1 |
Other IDs | Vega: OTTHUMG00000031949 HGNC: HGNC:16172 Ensembl: ENSG00000125888 |
Other names | BAF2, BAFL, BAF-L, C20orf179 |
Summary | None |
Individual ID | 29217584.09 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
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; |