RGD:155267176 Rat Genome Database

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Variant: RGD:155267176 -  Homo sapiens

RGD ID: 155267176
ClinVar ID: CV1699467
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,623,975
GRCh38 9 134,732,129
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000093.5:c.1389+2T>C
NM_001278074.1:c.1389+2T>C
NG_008030.1:g.95324T>C
LRG_737t2:c.1389+2T>C
More... 		03/10/2022 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002283262 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR