Genomic variant #0000055999

Individual ID 00029856
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.100839291T>A
DNA change (hg38) g.101196010T>A
Published as -
ISCN -
DB-ID MOGAT3_000001
Variant remarks not associated with phenotype
Reference PubMed: Caburet 2014, Journal: Caburet 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00469 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MOGAT3 NM_178176.2 ?/. 7 c.962A>T r.(?) p.(Gln321Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029922 DNA SEQ;SEQ-NG - - STAG3 9 Johan den Dunnen