Variant #0000003039 (NC_000016.10:g.50710912G>A, NOD2(NM_022162.2):c.1001G>A)

Individual ID 00000772
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.50710912G>A
Published as -
Reference Anna Mensa-Vilaro et al.(2016)
DB-ID NOD2_000001 See all 3 reported entries
dbSNP ID rs104895461
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
NOD2 NM_022162.2 +/. 4 c.1001G>A - r.(?) p.(Arg334Gln) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000866 DNA PCR;SEQ NOD2 1 Nur Aisyah Athirah