RGD:13804099 Rat Genome Database

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Variant: RGD:13804099 -  Homo sapiens

RGD ID: 13804099
RS ID: rs1569490148
ClinVar ID: CV578074
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 107,820,077
GRCh38 X 108,576,847
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.108576847G>T
NC_000023.10:g.107820077G>T
LRG_232t1:c.609+875G>T
LRG_232:g.141924G>T
More... 		10/13/2022 intron variant pathogenic|likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:COL4A5
Accession:XM_011530849
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029261
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029260
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029259
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441810
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441811
Location:INTRON

Gene Symbol:COL4A5
Accession:NM_033380
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029262
Location:INTRON

Gene Symbol:COL4A5
Accession:NM_000495
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24304881   PMID:25183659   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003050643 CLINVAR
dbSNP (RS) rs1569490148 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL4A5 CLINVAR
OMIM 303630 CLINVAR