RGD:11646986 Rat Genome Database

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Variant: RGD:11646986 -  Homo sapiens

RGD ID: 11646986
RS ID: rs886055714
ClinVar ID: CV287994
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 227,870,618
GRCh38 2 227,005,902
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_231t1:c.*1423T>C
LRG_231:g.163658T>C
NG_011592.1:g.163658T>C
NC_000002.12:g.227005902A>G
More... 		01/13/2018 3 prime utr variant uncertain significance Congenital hereditary hematuria; Hemorrhagic familial nephritis; Hemorrhagic hereditary nephritis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL4A4
Accession:NM_000092
Location:3UTRS;EXON

Gene Symbol:COL4A4
Accession:XM_005246282
Location:3UTRS;EXON

Gene Symbol:COL4A4
Accession:XM_017003297
Location:3UTRS;EXON

Gene Symbol:COL4A4
Accession:XM_006712246
Location:3UTRS;EXON

Gene Symbol:COL4A4
Accession:XM_011510572
Location:3UTRS;EXON

Gene Symbol:COL4A4
Accession:XM_011510557
Location:3UTRS;EXON

Gene Symbol:COL4A4
Accession:XM_011510558
Location:3UTRS;EXON

Gene Symbol:COL4A4
Accession:XM_047443228
Location:3UTRS;EXON

Gene Symbol:COL4A4
Accession:XM_005246281
Location:3UTRS;EXON

Gene Symbol:COL4A4
Accession:XM_011510569
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443246
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443249
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443241
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510566
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510560
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443250
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443245
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510561
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510559
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510567
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443242
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510570
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510562
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510568
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_011510565
Location:INTRON

Gene Symbol:COL4A4
Accession:XM_047443248
Location:INTRON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000273971 CLINVAR
dbSNP (RS) rs886055714 CLINVAR
MedGen C1567741 CLINVAR
NCBI Gene COL4A4 CLINVAR
OMIM 120131 CLINVAR