RGD:13838618 Rat Genome Database

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Variant: RGD:13838618 -  Homo sapiens

RGD ID: 13838618
RS ID: rs1569505503
ClinVar ID: CV590352
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A5  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 107,909,718
GRCh38 X 108,666,488
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.108666488T>G
NC_000023.10:g.107909718T>G
NM_033380.3:c.3455-8T>G
NG_011977.2:g.231565T>G
More...
08/03/2018 intron variant uncertain significance Alport syndrome 1, X-linked recessive; Alport Syndrome and Thin Basement Membrane Nephropathy; NEPHROPATHY AND DEAFNESS, X-LINKED
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 Information

Database Acc Id Source(s)
ClinVar RCV000735758 CLINVAR
dbSNP (RS) rs1569505503 CLINVAR
MedGen C4746986 CLINVAR
NCBI Gene COL4A5 CLINVAR
OMIM 301050 CLINVAR
  303630 CLINVAR