Overview

Variant ID 29628
Entrez Gene ID 9117
Gene SEC22C (GeneCards)
Location hg19 3:42610365-42610365
hg38 3:42568873-42568873
Disease Autism Spectrum Disorders (view all the variants in this disease)
Method MiSeq
Mutation(HGVS format) NC_000003.11:g.42610365 A>G (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 198022430

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 1.1429
CADD Raw score (version 1.3) 0.791673 (Deleterious)
FATHMM raw prediction score 0.9329 (Tolerated)
Deleterious probability by DeFine 0.8496 (Deleterious)
Entrez Gene ID 9117 (NCBI Gene)
Official Gene Symbol SEC22C (GeneCards)
Number of variants in SEC22C in this database 1 (view all the variants)
Full name SEC22 homolog C, vesicle trafficking protein
Band 3p22.1
Other IDs Vega: OTTHUMG00000131797
OMIM: 604028
HGNC: HGNC:16828
Ensembl: ENSG00000093183
Other names SEC22L3
Summary This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

Individual #1

Individual ID 28714951.304 (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;