RGD:13540998 Rat Genome Database

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Variant: RGD:13540998 -  Homo sapiens

RGD ID: 13540998
RS ID: rs1554801436
ClinVar ID: CV503081
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 137,687,096
GRCh38 9 134,795,250
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278074.1:c.2746-12C>G
NG_008030.1:g.158445C>G
NC_000009.12:g.134795250C>G
NC_000009.11:g.137687096C>G
More... 		04/30/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001712657 CLINVAR
dbSNP (RS) rs1554801436 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR