RGD:150433382 Rat Genome Database

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Variant: RGD:150433382 -  Homo sapiens

RGD ID: 150433382
RS ID: rs78846229
ClinVar ID: CV1203656
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,717,797
GRCh38 9 134,825,951
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008030.1:g.189146G>A
NC_000009.12:g.134825951G>A
LRG_737t2:c.5067+47G>A
NM_000093.5:c.5067+47G>A
More... 		06/26/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001581812 CLINVAR
dbSNP (RS) rs78846229 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
  LOC101448202 CLINVAR
OMIM 120215 CLINVAR