RGD:11610575 Rat Genome Database

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Variant: RGD:11610575 -  Homo sapiens

RGD ID: 11610575
RS ID: rs77145856
ClinVar ID: CV307547
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 137,735,492
GRCh38 9 134,843,646
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.*1343A>G
NG_008030.1:g.206841A>G
NC_000009.12:g.134843646A>G
NC_000009.11:g.137735492A>G
More... 		01/12/2018 3 prime utr variant benign|likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:LOC101448202
Accession:NR_103451
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000383211 CLINVAR
  RCV001168974 CLINVAR
dbSNP (RS) rs77145856 CLINVAR
MedGen C3508773 CLINVAR
  C4225429 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR