Genomic variant #0000169199

Individual ID 00103988
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.179887067A>C
DNA change (hg38) g.179917932A>C
Published as -
ISCN -
DB-ID TOR1AIP1_000004
Variant remarks located in a 6.8-Mb homozygosity region; not in 200 control chromosomes; reduced expression of LAP1 and mislocalization and aggregation in endoplasmic reticulum
Reference PubMed: Dorboz 2014, Journal: Dorboz 2014, OMIM:var0002
ClinVar ID -
dbSNP ID rs886037845
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 +?/. 10 c.1448A>C - r.(?) p.(Glu483Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104458 DNA SEQ;SEQ-NG - - TOR1AIP1 1 Johan den Dunnen