RGD:127274758 Rat Genome Database

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Variant: RGD:127274758 -  Homo sapiens

RGD ID: 127274758
RS ID: rs2139536118
ClinVar ID: CV1101623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 111,143,567
GRCh38 13 110,491,220
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001846.4:c.3347-13T>C
NG_032137.1:g.188937T>C
NC_000013.11:g.110491220T>C
NC_000013.10:g.111143567T>C
 10/25/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL4A2
Accession:NM_001846
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001442968 CLINVAR
dbSNP (RS) rs2139536118 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL4A2 CLINVAR
OMIM 120090 CLINVAR