RGD:11663173 Rat Genome Database

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Variant: RGD:11663173 -  Homo sapiens

RGD ID: 11663173
RS ID: rs886057445
ClinVar ID: CV351458
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYN3  TIMP3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 33,257,156
GRCh38 22 32,861,169
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_000362.4:c.*1792A>G
NC_000022.11:g.32861169A>G
NC_000022.10:g.33257156A>G
NM_133633.3:c.711+3746T>C
More... 		01/13/2018 3 prime utr variant uncertain significance adult Fundus dystrophy, pseudoinflammatory, of Sorsby; Macular dystrophy, hemorrhagic; Sorsby fundus dystrophy, Lavia type; Sorsby's pseudoinflammatory macular dystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TIMP3
Accession:NM_000362
Location:3UTRS;EXON

Gene Symbol:SYN3
Accession:XM_047441527
Location:INTRON

Gene Symbol:SYN3
Accession:XM_047441525
Location:INTRON

Gene Symbol:SYN3
Accession:XM_047441528
Location:INTRON

Gene Symbol:SYN3
Accession:XM_047441530
Location:INTRON

Gene Symbol:SYN3
Accession:XM_017028962
Location:INTRON

Gene Symbol:SYN3
Accession:XM_011530410
Location:INTRON

Gene Symbol:SYN3
Accession:XM_047441529
Location:INTRON

Gene Symbol:SYN3
Accession:NM_001135774
Location:INTRON

Gene Symbol:SYN3
Accession:NM_001369908
Location:INTRON

Gene Symbol:SYN3
Accession:NM_001369907
Location:INTRON

Gene Symbol:SYN3
Accession:XM_017028961
Location:INTRON

Gene Symbol:SYN3
Accession:XM_047441526
Location:INTRON

Gene Symbol:SYN3
Accession:NM_133633
Location:INTRON

Gene Symbol:SYN3
Accession:NM_001369909
Location:INTRON

Gene Symbol:SYN3
Accession:NM_001369910
Location:INTRON

Gene Symbol:SYN3
Accession:XM_011530405
Location:INTRON

Gene Symbol:SYN3
Accession:NM_003490
Location:INTRON

Gene Symbol:SYN3
Accession:XM_017028963
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000393303 CLINVAR
dbSNP (RS) rs886057445 CLINVAR
MedGen C1850938 CLINVAR
NCBI Gene SYN3 CLINVAR
  TIMP3 CLINVAR
OMIM 136900 CLINVAR
  188826 CLINVAR
  602705 CLINVAR