RGD:126912810 Rat Genome Database

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Variant: RGD:126912810 -  Homo sapiens

RGD ID: 126912810
RS ID: rs765195717
ClinVar ID: CV1041119
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A4  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 227,974,009
GRCh38 2 227,109,293
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_231:g.60267T>A
NG_011592.1:g.60267T>A
NM_000092.5:c.595-7T>A
NC_000002.11:g.227974009A>T
More...
06/30/2021 intron variant uncertain significance ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; Alport syndrome recessive type; Benign familial hematuria; COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy; Congenital hereditary hematuria; Hemorrhagic familial nephritis; Hemorrhagic hereditary nephritis; Nephropathy and deafness; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL4A4
Accession:NM_000092
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_005246281
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_005246282
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_006712246
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510565
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510570
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510562
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510569
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510561
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510567
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510566
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510559
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510560
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510558
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510557
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510572
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510568
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_017003297
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443250
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443245
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443249
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443248
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443242
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443241
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443228
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443246
Location:INTRON

Gene Symbol:COL4A4
Accession:XR_922837
Location:INTRON;NON-CODING

Gene Symbol:COL4A4
Accession:XR_001738602
Location:INTRON;NON-CODING

Gene Symbol:COL4A4
Accession:XR_007069255
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001369870 CLINVAR
  RCV001831294 CLINVAR
  RCV002504616 CLINVAR
dbSNP (RS) rs765195717 CLINVAR
MedGen C1567741 CLINVAR
  C3661900 CLINVAR
  C4746745 CLINVAR
NCBI Gene COL4A4 CLINVAR
OMIM 120131 CLINVAR
  141200 CLINVAR
  203780 CLINVAR
SNOMED CT 236421001 CLINVAR