RGD:14724912 Rat Genome Database

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Variant: RGD:14724912 -  Homo sapiens

RGD ID: 14724912
RS ID: rs62571364
ClinVar ID: CV663450
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,677,985
GRCh38 9 134,786,139
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.2646+91C>T
NM_001278074.1:c.2646+91C>T
NG_008030.1:g.149334C>T
NC_000009.12:g.134786139C>T
More... 		06/19/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000833194 CLINVAR
dbSNP (RS) rs62571364 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR