RGD:126774704 Rat Genome Database

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Variant: RGD:126774704 -  Homo sapiens

RGD ID: 126774704
RS ID: rs770364064
ClinVar ID: CV1024187
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A4  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 227,886,889
GRCh38 2 227,022,173
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000092.5:c.4091G>T
LRG_231:g.147387G>T
NG_011592.1:g.147387G>T
NC_000002.12:g.227022173C>A
More... 		10/28/2020 missense variant uncertain significance Congenital hereditary hematuria; Hemorrhagic familial nephritis; Hemorrhagic hereditary nephritis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL4A4
Accession:XM_047443246
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_005246282
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510570
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_017003297
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_005246281
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443250
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_006712246
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510572
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443228
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510569
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510567
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443241
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510566
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510559
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510568
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510558
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510565
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510561
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510562
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510560
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443245
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443249
Location:INTRON

Gene Symbol:COL4A4
Accession:NM_000092
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510557
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443248
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443242
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001347530 CLINVAR
  RCV001831134 CLINVAR
dbSNP (RS) rs770364064 CLINVAR
MedGen C1567741 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL4A4 CLINVAR
OMIM 120131 CLINVAR