RGD:11598000 Rat Genome Database

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Variant: RGD:11598000 -  Homo sapiens

RGD ID: 11598000
RS ID: rs577878179
ClinVar ID: CV301129
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LCA5  LOC100506851  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 80,196,087
GRCh38 6 79,486,370
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016011.1:g.56061A>C
NC_000006.12:g.79486370T>G
NC_000006.11:g.80196087T>G
NM_001122769.3:c.*634A>C
More... 		06/14/2016 3 prime utr variant uncertain significance Amaurosis congenita of Leber, type 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LCA5
Accession:NM_181714
Location:3UTRS;EXON

Gene Symbol:LCA5
Accession:XM_011535504
Location:3UTRS;EXON

Gene Symbol:LCA5
Accession:XM_005248665
Location:3UTRS;EXON

Gene Symbol:LCA5
Accession:NM_001122769
Location:3UTRS;EXON

Gene Symbol:LCA5
Accession:XM_047418251
Location:3UTRS;EXON

Gene Symbol:LOC100506851
Accession:XR_001744213
Location:INTRON;NON-CODING

Gene Symbol:LOC100506851
Accession:XR_942711
Location:INTRON;NON-CODING

Gene Symbol:LOC100506851
Accession:XR_001744214
Location:INTRON;NON-CODING

Gene Symbol:LOC100506851
Accession:XR_001744215
Location:INTRON;NON-CODING

Gene Symbol:LOC100506851
Accession:XR_942713
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000400566 CLINVAR
dbSNP (RS) rs577878179 CLINVAR
MedGen C1858301 CLINVAR
NCBI Gene LCA5 CLINVAR
OMIM 604537 CLINVAR
  611408 CLINVAR