RGD:21073797 Rat Genome Database

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Variant: RGD:21073797 -  Homo sapiens

RGD ID: 21073797
RS ID: rs1603290097
ClinVar ID: CV792109
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 107,840,597
GRCh38 X 108,597,367
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.1588-10C>G
NG_011977.2:g.162444C>G
NC_000023.11:g.108597367C>G
NC_000023.10:g.107840597C>G
More...
10/17/2022 intron variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance 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_011530849
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029260
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029259
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029261
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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000990926 CLINVAR
  RCV002549753 CLINVAR
dbSNP (RS) rs1603290097 CLINVAR
MedGen C3661900 CLINVAR
  C4746986 CLINVAR
NCBI Gene COL4A5 CLINVAR
OMIM 301050 CLINVAR
  303630 CLINVAR