Variant ID | 29689 |
---|---|
Entrez Gene ID | 65999 |
Gene | LRRC61 (GeneCards) |
Location | hg19 7:150034256-150034256
hg38 7:150337167-150337167 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
Method | MiSeq |
Mutation(HGVS format) | NC_000007.13:g.150034256 C>T (Genome Assembly: hg19) |
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 | 159138663 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | 1.4858 |
CADD Raw score (version 1.3) | 0.99148 (Deleterious) |
FATHMM raw prediction score | 0.92242 (Tolerated) |
Deleterious probability by DeFine | 0.9235 (Deleterious) |
Entrez Gene ID | 65999 (NCBI Gene) |
---|---|
Official Gene Symbol | LRRC61 (GeneCards) |
Number of variants in LRRC61 in this database | 1 (view all the variants) |
Full name | leucine rich repeat containing 61 |
Band | 7q36.1 |
Other IDs | Vega: OTTHUMG00000158326 HGNC: HGNC:21704 Ensembl: ENSG00000127399 |
Other names | HSPC295 |
Summary | None |
Individual ID | 28714951.365 (view all the variants in this individual) |
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Pubmed ID | 28714951 |
Whose mosaic mutation | Patient |
Phenotype | 3 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
OMIM ID | 209850 |
Pubmed ID | 28714951 |
---|---|
Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
Journal | Nat Neurosci |
Publication date | 2017.07 |
Disease | Autism Spectrum Disorders |
Incidence | 0.01 |
Number of cases | cases of unknown sex: 376; |