RGD:21066996 Rat Genome Database

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Variant: RGD:21066996 -  Homo sapiens

RGD ID: 21066996
RS ID: rs183885286
ClinVar ID: CV789375
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,681,245
GRCh38 9 134,789,399
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.152594C>T
NC_000009.12:g.134789399C>T
LRG_737:g.152594C>T
NM_000093.5:c.2700+191C>T
More... 		08/25/2019 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


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 RCV000985028 CLINVAR
dbSNP (RS) rs183885286 CLINVAR
MedGen C4225429 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR