RGD:8567523 Rat Genome Database

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Variant: RGD:8567523 -  Homo sapiens

RGD ID: 8567523
RS ID: rs587776402
ClinVar ID: CV36055
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 107,929,260
GRCh38 X 108,686,030
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
NC_000023.11:g.108686030G>A
NC_000023.10:g.107929260G>A
NM_000495.5:c.4199-1G>A
NM_033380.3:c.4217-1G>A
More... 		02/16/2021 splice acceptor variant|splice_acceptor_variant pathogenic|likely pathogenic childhood 1-9 / 100 000 Alport syndrome 1, X-linked recessive; Alport Syndrome and Thin Basement Membrane Nephropathy; NEPHROPATHY AND DEAFNESS, X-LINKED; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL4A5
Accession:XM_011530849
Location:INTRON

Gene Symbol:COL4A5
Accession:NM_000495
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029259
Location:INTRON

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_047441810
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441811
Location:INTRON

Gene Symbol:COL4A5
Accession:NM_033380
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000021593 CLINVAR
  RCV001804743 CLINVAR
dbSNP (RS) rs587776402 CLINVAR
MedGen C3661900 CLINVAR
  C4746986 CLINVAR
NCBI Gene COL4A5 CLINVAR
OMIM 301050 CLINVAR
  303630 CLINVAR