RGD:41406714 Rat Genome Database

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Variant: RGD:41406714 -  Homo sapiens

RGD ID: 41406714
RS ID: rs766501515
ClinVar ID: CV962825
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 227,875,240
GRCh38 2 227,010,524
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.227010524T>C
NC_000002.11:g.227875240T>C
NM_000092.5:c.4334-23A>G
NC_000002.11:g.227875240T>C
More... 		10/14/2021 intron variant likely pathogenic ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; Alport syndrome recessive type; COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy; Nephropathy and deafness; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL4A4
Accession:XM_011510562
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510561
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510557
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443242
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510569
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510560
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443248
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443245
Location:INTRON

Gene Symbol:COL4A4
Accession:NM_000092
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443249
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510568
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_005246281
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510567
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510572
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443246
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_006712246
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510566
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510559
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510565
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510570
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_017003297
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_005246282
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510558
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443250
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443241
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443228
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:9792860   PMID:25741868   PMID:28492532   PMID:33532864  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001281124 CLINVAR
  RCV001879803 CLINVAR
dbSNP (RS) rs766501515 CLINVAR
MedGen C3661900 CLINVAR
  C4746745 CLINVAR
NCBI Gene COL4A4 CLINVAR
OMIM 120131 CLINVAR
  203780 CLINVAR