RGD:28896598 Rat Genome Database

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Variant: RGD:28896598 -  Homo sapiens

RGD ID: 28896598
RS ID: rs200392967
ClinVar ID: CV895970
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375056  TREM2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 41,129,275
GRCh38 6 41,161,537
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_631t1:c.117C>G
NC_000006.11:g.41129275G>C
NM_018965.3:c.117C>G
NP_001258750.1:p.Asp39Glu
More... 		02/02/2022 missense variant likely pathogenic|uncertain significance Dementia, frontotemporal, with or without parkinsonism; Dementia, frontotemporal, with parkinsonism; FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS; FRONTOTEMPORAL LOBE DEMENTIA; Frontotemporal lobe dementia (FLDEM); FTLD WITH TAU INCLUSIONS; Multiple system tauopathy with presenile dementia; none provided; WILHELMSEN-LYNCH DISEASE
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TREM2
Accession:NM_001271821
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYESMKHWGRRKAWCRQLGEKGPCQRVVSTHNLWLLSFLRRWNG
STAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGSEADTLRKVLVEVLADPLDHRDAGDLWFPGESESFEDAHVEHSIS
RAERHVKEDDGRKSPGEVPPGTSPACILATWPPGLLVLLWQETTLPEHCFSWTLEAGTG*

Gene Symbol:TREM2
Accession:NM_018965
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYESMKHWGRRKAWCRQLGEKGPCQRVVSTHNLWLLSFLRRWNG
STAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGSEADTLRKVLVEVLADPLDHRDAGDLWFPGESESFEDAHVEHSIS
RSLLEGEIPFPPTSILLLLACIFLIKILAASALWAAAWHGQKPGTHPPSELDCGHDPGYQLQTLPGLRDT*
Variant Samples
Additional References at PubMed
PMID:24119542   PMID:25186855   PMID:28492532   PMID:29723869  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001154721 CLINVAR
  RCV001847172 CLINVAR
  RCV002032426 CLINVAR
dbSNP (RS) rs200392967 CLINVAR
MedGen C0338451 CLINVAR
  C4748657 CLINVAR
  CN517202 CLINVAR
NCBI Gene TREM2 CLINVAR
OMIM 600274 CLINVAR
  605086 CLINVAR
  618193 CLINVAR
SNOMED CT 230270009 CLINVAR