Variant #0000839892 (NC_000003.11:g.119451267C>G, MAATS1(NM_033364.3):c.1145C>G)

Individual ID 00402918
Chromosome 3
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.119451267C>G
DNA change (hg38) -
Published as Pro382Asp
ISCN -
DB-ID MAATS1_000005
Variant remarks -
Reference PubMed: Ozen 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00014 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAATS1 NM_033364.3 ?/. - c.1145C>G r.(?) p.(Pro382Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000404159 DNA SEQ;SEQ-NG - WES - 10 Johan den Dunnen