RGD:243056433 Rat Genome Database

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Variant: RGD:243056433 -  Homo sapiens

RGD ID: 243056433
ClinVar ID: CV2414689
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 137,735,935
GRCh38 9 134,844,089
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737:g.207284C>G
NG_008030.1:g.207284C>G
NC_000009.12:g.134844089C>G
NC_000009.11:g.137735935C>G
More... 		10/14/2019 3 prime utr variant uncertain significance none provided

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 References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003145719 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
  LOC101448202 CLINVAR
OMIM 120215 CLINVAR