RGD:151352401 Rat Genome Database

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Variant: RGD:151352401 -  Homo sapiens

RGD ID: 151352401
RS ID: rs889625058
ClinVar ID: CV1321368
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 137,657,598
GRCh38 9 134,765,752
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.134765752C>G
LRG_737t2:c.2088+18C>G
NM_000093.5:c.2088+18C>G
NM_001278074.1:c.2088+18C>G
More... 		07/02/2021 intron variant likely benign none provided

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

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001811804 CLINVAR
dbSNP (RS) rs889625058 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR