RGD:10409488 Rat Genome Database

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Variant: RGD:10409488 -  Homo sapiens

RGD ID: 10409488
RS ID: rs863223453
ClinVar ID: CV210095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,709,677
GRCh38 9 134,817,831
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737p2:p.Lys1410Asn
NM_001278074.1:c.4230G>C
NG_008030.1:g.181026G>C
NC_000009.12:g.134817831G>C
More... 		08/25/2014 missense variant likely pathogenic 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 RCV000196211 CLINVAR
dbSNP (RS) rs863223453 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR