RGD:13804102 Rat Genome Database

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Variant: RGD:13804102 -  Homo sapiens

RGD ID: 13804102
ClinVar ID: CV578297
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 107,938,671
GRCh38 X 108,695,441
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033380.3:c.4994+2T>C
NG_011977.2:g.260518T>C
NM_000495.4:c.4976+2T>C
NG_011977.1:g.260518T>C
More... 		04/13/2018 splice donor variant pathogenic 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:XM_047441811
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029259
Location:INTRON

Gene Symbol:COL4A5
Accession:NM_000495
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029260
Location:INTRON

Gene Symbol:COL4A5
Accession:NM_033380
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441810
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029261
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_011530849
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029262
Location:INTRON

Variant Samples