RGD:13527340 Rat Genome Database

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Variant: RGD:13527340 -  Homo sapiens

RGD ID: 13527340
RS ID: rs1554807494
ClinVar ID: CV503097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,714,003
GRCh38 9 134,822,157
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.4608+7A>T
NG_008030.1:g.185352A>T
NC_000009.12:g.134822157A>T
NC_000009.11:g.137714003A>T
More... 		01/23/2018 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

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 RCV000599719 CLINVAR
dbSNP (RS) rs1554807494 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR