Overview

Variant ID 29385
Entrez Gene ID 4018
Gene LPA (GeneCards)
Location hg19 6:161056186-161056186
hg38 6:160635154-160635154
Disease Autism Spectrum Disorders (view all the variants in this disease)
Method MiSeq
Mutation(HGVS format) NC_000006.11:g.161056186 C>T (Genome Assembly: hg19)

Other information

Exon or Intron NA
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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.5758
CADD Raw score (version 1.3) 0.607026 (Deleterious)
FATHMM raw prediction score 0.03817 (Tolerated)
Deleterious probability by DeFine 0.7897 (Deleterious)
Entrez Gene ID 4018 (NCBI Gene)
Official Gene Symbol LPA (GeneCards)
Number of variants in LPA in this database 5 (view all the variants)
Full name lipoprotein(a)
Band 6q25.3-q26
Other IDs Vega: OTTHUMG00000015956
OMIM: 152200
HGNC: HGNC:6667
Ensembl: ENSG00000198670
Other names LP, AK38, APOA
Summary The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009]

Individual #1

Individual ID 28714951.61 (view all the variants in this individual)
Pubmed ID 28714951
Whose mosaic mutation Patient  
Phenotype 3  
Disease Autism Spectrum Disorders (view all the variants in this disease)
OMIM ID 209850

Publication #1: 28714951

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;