RGD:401797322 Rat Genome Database

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Variant: RGD:401797322 -  Homo sapiens

RGD ID: 401797322
ClinVar ID: CV2742078
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,658,918
GRCh38 9 134,767,072
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t2:c.2187+19G>A
NM_000093.5:c.2187+19G>A
NM_001278074.1:c.2187+19G>A
LRG_737:g.130267G>A
More... 		07/21/2023 intron variant uncertain significance AllHighlyPenetrant

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 RCV003324256 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR