Variant #0000001953 (NC_000002.12:g.47410109C>G, NM_000251.2:c.382C>G (MSH2))

Individual ID 00000417
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.47410109C>G
Published as -
Reference -
DB-ID MSH2_000009
dbSNP ID rs145649774
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-02-16 10:41:46 +08:00 (CST)
Date last edited 2021-09-05 12:15:54 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
MSH2 NM_000251.2 +/. 3 c.382C>G - r.(?) p.(Leu128Val) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000436 DNA PCR MSH2 4 Nur Aisyah Athirah