RGD:12841927 Rat Genome Database

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Variant: RGD:12841927 -  Homo sapiens

RGD ID: 12841927
RS ID: rs375921390
ClinVar ID: CV372557
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  LOC127816665  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,734,157
GRCh38 9 134,842,311
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.*8C>T
NG_008030.1:g.205506C>T
NC_000009.12:g.134842311C>T
NC_000009.11:g.137734157C>T
More... 		10/09/2018 3 prime utr variant likely benign none provided
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 References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001698380 CLINVAR
  RCV003912769 CLINVAR
dbSNP (RS) rs375921390 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR