Variant #0000001354 (NC_000007.14:g.30452621C>T, NM_006092.3:c.796G>A (NOD1))

Individual ID 00000278
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.30452621C>T
Published as -
Reference Kek Heng Chua et al. (2016), dbSNP
DB-ID NOD1_000001 See all 6 reported entries
dbSNP ID rs2075820
Frequency 1/27
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-20 15:37:43 +08:00 (CST)
Date last edited 2021-08-30 09:56:43 +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     
NOD1 NM_006092.3 +/. - c.796G>A - r.(?) p.(Glu266Lys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000293 DNA PCR NOD1 2 Nuur Athirah Binti Mohd Daud