RGD:28906441 Rat Genome Database

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Variant: RGD:28906441 -  Homo sapiens

RGD ID: 28906441
RS ID: rs79765454
ClinVar ID: CV900275
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LCA5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 80,234,867
GRCh38 6 79,525,150
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001122769.3:c.-191-6065C>A
NM_181714.4:c.-192+14C>A
NG_016011.1:g.17281C>A
NC_000006.12:g.79525150G>T
More... 		01/13/2018 intron 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_001122769
Location:5UTRS;INTRON

Gene Symbol:LCA5
Accession:XM_047418251
Location:5UTRS;INTRON

Gene Symbol:LCA5
Accession:NM_181714
Location:5UTRS;INTRON

Gene Symbol:LCA5
Accession:XM_011535504
Location:5UTRS;INTRON

Gene Symbol:LCA5
Accession:XM_005248665
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001158966 CLINVAR
dbSNP (RS) rs79765454 CLINVAR
MedGen C1858301 CLINVAR
NCBI Gene LCA5 CLINVAR
OMIM 604537 CLINVAR
  611408 CLINVAR