Variant #0000001394 (NC_000005.10:g.150879305A>G, NC_000005.10(NM_001346557.1):c.532-280A>G (IRGM))

Individual ID 00000293
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.150879305A>G
Published as -
Reference Boon Pin Kee et al. (2020), dbSNP
DB-ID IRGM_000002 See all 6 reported entries
dbSNP ID rs4958847
Frequency 16/38
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 2020-12-21 16:13:45 +08:00 (CST)
Date last edited 2021-08-29 15:00:11 +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     
IRGM NM_001346557.1 +/. - c.532-280A>G - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000308 DNA TaqMan IRGM 5 Nuur Athirah Binti Mohd Daud