rs112132700 Rat Genome Database

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Variant: rs112132700 -  Homo sapiens

RGD ID: 14728904
RS ID: rs112132700
ClinVar ID: CV664289
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 137,721,737
GRCh38 9 134,829,891
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001278074.1:c.5068-217A>G
NG_008030.1:g.193086A>G
NC_000009.12:g.134829891A>G
NC_000009.11:g.137721737A>G
More... 		06/14/2018 intron variant likely benign none provided

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:LOC101448202
Accession:NR_103451
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV000834982 CLINVAR
dbSNP (RS) rs112132700 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR