RGD:8567578 Rat Genome Database

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Variant: RGD:8567578 -  Homo sapiens

RGD ID: 8567578
RS ID: rs104886300
ClinVar ID: CV36114
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 107,938,151
GRCh38 X 108,694,921
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000023.11:g.108694921G>A
NC_000023.10:g.107938151G>A
NP_000486.1:p.Met1601Ile
NP_203699.1:p.Met1607Ile
More... 		10/14/2021 missense|missense variant pathogenic childhood 1-9 / 100 000 none provided

Variant Details
Variant Transcripts
Gene Symbol:COL4A5
Accession:NM_033380
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029260
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029261
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029259
Location:INTRON

Gene Symbol:COL4A5
Accession:NM_000495
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_011530849
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441811
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_017029262
Location:INTRON

Gene Symbol:COL4A5
Accession:XM_047441810
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8510391   PMID:9536098   PMID:10094548   PMID:17576681   PMID:20378821   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001090396 CLINVAR
dbSNP (RS) rs104886300 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL4A5 CLINVAR
OMIM 303630 CLINVAR