RGD:8567130 Rat Genome Database

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Variant: RGD:8567130 -  Homo sapiens

RGD ID: 8567130
ClinVar ID: CV35647
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A5  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 107,821,305
GRCh38 X 108,578,075
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011977.1:g.143152C>A
NC_000023.11:g.108578075C>A
NC_000023.10:g.107821305C>A
NM_000495.3:c.646-3C>A
More... 		12/04/2012 intron|intron variant pathogenic childhood 1-9 / 100 000 Alport Syndrome and Thin Basement Membrane Nephropathy; COL4A5 Alport Syndrome; COL4A5- Related Nephropathy; NEPHROPATHY AND DEAFNESS, X-LINKED; X-linked Alport syndrome

Variant Details
Variant Transcripts
Gene Symbol:COL4A5
Accession:NM_000495
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_011530849
Location:INTRON

Gene Symbol:COL4A5
Accession:NM_033380
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029262
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441810
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441811
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029260
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029261
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029259
Location:INTRON

Variant Samples