RGD:8567442 Rat Genome Database

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Variant: RGD:8567442 -  Homo sapiens

RGD ID: 8567442
RS ID: rs104886388
ClinVar ID: CV35974
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A5  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 107,909,717
GRCh38 X 108,666,487
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.108666487A>G
NC_000023.10:g.107909717A>G
NP_203699.1:p.?
NM_000495.5:c.3455-9A>G
More... 		10/07/2020 intron|intron variant 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:NM_033380
Location:INTRON

Gene Symbol:COL4A5
Accession:NM_000495
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029261
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029259
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441811
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029262
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_011530849
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029260
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441810
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10862091   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001382249 CLINVAR
  RCV003338386 CLINVAR
dbSNP (RS) rs104886388 CLINVAR
MedGen C3661900 CLINVAR
  C4746986 CLINVAR
NCBI Gene COL4A5 CLINVAR
OMIM 301050 CLINVAR
  303630 CLINVAR