Variant #0001020116 (NC_000002.11:g.198571802A>G, NM_138395.3:c.1673A>G (MARS2))

Individual ID 00444098
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.198571802A>G
DNA change (hg38) g.197707078A>G
Published as NM_001198534.1:c.15G>A (Trp5Ter)
ISCN -
DB-ID MARS2_000018
Variant remarks -
Reference PubMed: Bayam 2024
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-12-27 15:44:54 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MARS2 NM_138395.3 -/. - c.1673A>G r.(?) p.(Tyr558Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000445596 DNA SEQ-NG-I - - - 13 Zafer Yuksel


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