Variant #0000001472 (NC_000006.11:g.41129195G>A, TREM2(NM_018965.3):c.197C>T)

Individual ID 00001472
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.41129195G>A
Reference Le Ber I1, De Septenville A2, Guerreiro R3, Bras J3, Camuzat A2, Caroppo P2, Lattante S2, Couarch P2, Kabashi E2, Bouya-Ahmed K2, Dubois B1, Brice A4.(2014)
DB-ID TREM2_000001 See all 3 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
TREM2 NM_018965.3 ./. 2 c.197C>T r.(?) p.(Thr66Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001472 ? ? TREM2 1 Y Yang