rs4842172 Rat Genome Database

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Variant: rs4842172 -  Homo sapiens

RGD ID: 14721094
RS ID: rs4842172
ClinVar ID: CV664058
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,717,869
GRCh38 9 134,826,023
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_000093.5:c.5067+119C>T
NM_001278074.1:c.5067+119C>T
NG_008030.1:g.189218C>T
NC_000009.12:g.134826023C>T
More... 		06/14/2018 intron variant 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 RCV000831523 CLINVAR
dbSNP (RS) rs4842172 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR