RGD:11547763 Rat Genome Database

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Variant: RGD:11547763 -  Homo sapiens

RGD ID: 11547763
RS ID: rs886038233
ClinVar ID: CV253433
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,688,679
GRCh38 9 134,796,833
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278074.1:c.2845-15T>C
NG_008030.1:g.160028T>C
NC_000009.12:g.134796833T>C
NC_000009.11:g.137688679T>C
More... 		intron variant likely benign AllHighlyPenetrant

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

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248191 CLINVAR
dbSNP (RS) rs886038233 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR