RGD:11350765 Rat Genome Database

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Variant: RGD:11350765 -  Homo sapiens

RGD ID: 11350765
RS ID: rs2234258
ClinVar ID: CV237073
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375056  TREM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 41,126,429
GRCh38 6 41,158,691
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_018965.3:c.*73G>A
LRG_631t1:c.*73G>A
LRG_631:g.9494G>A
NG_011561.1:g.9494G>A
More... 		12/04/2018 3 prime utr variant|nonsense benign|likely benign adolescent <1 / 1 000 000 AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TREM2
Accession:NM_018965
Location:3UTRS;EXON

Gene Symbol:TREM2
Accession:NM_001271821
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYDSMKHWGRRKAWCRQLGEKGPCQRVVSTHNLWLLSFLRRWNG
STAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGSEADTLRKVLVEVLADPLDHRDAGDLWFPGESESFEDAHVEHSIS
RAERHVKEDDGRKSPGEVPPGTSPACILAT*PPGLLVLLWQETTLPEHCFSWTLEAGTG*
Variant Samples
Additional References at PubMed
PMID:19019460   PMID:24119542   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000224373 CLINVAR
  RCV000291327 CLINVAR
  RCV000733767 CLINVAR
dbSNP (RS) rs2234258 CLINVAR
MedGen C3661900 CLINVAR
  C4748657 CLINVAR
  CN169374 CLINVAR
NCBI Gene TREM2 CLINVAR
OMIM 605086 CLINVAR
  618193 CLINVAR