RGD:126745680 Rat Genome Database

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Variant: RGD:126745680 -  Homo sapiens

RGD ID: 126745680
RS ID: rs2068058963
ClinVar ID: CV976186
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 107,908,736
GRCh38 X 108,665,506
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_232t1:c.3374-1G>A
LRG_232t2:c.3374-1G>A
NM_000495.5:c.3374-1G>A
NM_033380.3:c.3374-1G>A
More... 		06/01/2018 splice acceptor variant pathogenic Congenital hereditary hematuria; Hemorrhagic familial nephritis; Hemorrhagic hereditary nephritis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL4A5
Accession:XM_017029260
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029262
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029261
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_011530849
Location:INTRON

Gene Symbol:COL4A5
Accession:NM_000495
Location:INTRON

Gene Symbol:COL4A5
Accession:NM_033380
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029259
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441811
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441810
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001328184 CLINVAR
dbSNP (RS) rs2068058963 CLINVAR
MedGen C1567741 CLINVAR
NCBI Gene COL4A5 CLINVAR
OMIM 303630 CLINVAR