rs141398004 Rat Genome Database

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Variant: rs141398004 -  Homo sapiens

RGD ID: 150414247
RS ID: rs141398004
ClinVar ID: CV1197886
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,714,228
GRCh38 9 134,822,382
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.4608+232C>T
NM_001278074.1:c.4608+232C>T
LRG_737:g.185577C>T
NG_008030.1:g.185577C>T
More... 		07/06/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
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 RCV001574876 CLINVAR
dbSNP (RS) rs141398004 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
  LOC101448202 CLINVAR
OMIM 120215 CLINVAR