Overview

Variant ID 29658
Entrez Gene ID 1952
Gene CELSR2 (GeneCards)
Location hg19 1:109801415-109801415
hg38 1:109258793-109258793
Disease Autism Spectrum Disorders (view all the variants in this disease)
Method MiSeq
Mutation(HGVS format) NC_000001.10:g.109801415 G>A (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 249250621

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 1.8659
CADD Raw score (version 1.3) 0.569802 (Deleterious)
FATHMM raw prediction score 0.97617 (Tolerated)
Deleterious probability by DeFine 0.9743 (Deleterious)
Entrez Gene ID 1952 (NCBI Gene)
Official Gene Symbol CELSR2 (GeneCards)
Number of variants in CELSR2 in this database 1 (view all the variants)
Full name cadherin EGF LAG seven-pass G-type receptor 2
Band 1p13.3
Other IDs Vega: OTTHUMG00000012003
OMIM: 604265
HGNC: HGNC:3231
Ensembl: ENSG00000143126
Other names EGFL2, MEGF3, ADGRC2, CDHF10, Flamingo1
Summary The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 28714951.334 (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;