Variant ID | 9504 |
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Entrez Gene ID | 79981 |
Gene | FRMD1 (GeneCards) |
Location | hg19 6:168515269-168515269
hg38 6:168114589-168114589 |
Disease | Asymptomatic |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000006.11:g.168515269 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 | 171115067 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.1779 |
CADD Raw score (version 1.3) | -0.056105 (Deleterious) |
FATHMM raw prediction score | 0.10826 (Tolerated) |
Deleterious probability by DeFine | 0.2732 (Neutral) |
Entrez Gene ID | 79981 (NCBI Gene) |
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Official Gene Symbol | FRMD1 (GeneCards) |
Number of variants in FRMD1 in this database | 5 (view all the variants) |
Full name | FERM domain containing 1 |
Band | 6q27 |
Other IDs | Vega: OTTHUMG00000016037 HGNC: HGNC:21240 Ensembl: ENSG00000153303 |
Other names | bA164L23.1 |
Summary | None |
Individual ID | 29217584.10 (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; |