Variant #0000003202 (NC_000002.12:g.32249894T>A, NM_001199138.1:c.1970A>T (NLRC4))

Individual ID 00000832
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32249894T>A
Published as NLRC4 c.1970A>T
Reference Intan Juliana Abd Hamid et al. (2020)
DB-ID NLRC4_000001 See all 2 reported entries
dbSNP ID rs104895508
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Noorzalifah Binti Mazuki
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Noorzalifah Binti Mazuki
Date created 2021-08-10 13:07:21 +08:00 (CST)
Date last edited 2022-01-25 09:34:50 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
NLRC4 NM_001199138.1 ?/. - c.1970A>T NLRC4 c.1970A>T r.(?) p.(Gln657Leu) ClinVar
NLRC4 NM_001199139.1 ?/. - c.1970A>T NLRC4 c.1970A>T r.(?) p.(Gln657Leu) ClinVar
NLRC4 NM_001302504.1 ?/. - c.262+2525A>T NLRC4 c.1970A>T r.(=) p.(=) ClinVar
NLRC4 NM_021209.4 ?/. - c.1970A>T NLRC4 c.1970A>T r.(?) p.(Gln657Leu) ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000951 DNA ? NLRC4 1 Noorzalifah Binti Mazuki