RGD:152147243 Rat Genome Database

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Variant: RGD:152147243 -  Homo sapiens

RGD ID: 152147243
RS ID: rs765535192
ClinVar ID: CV1615613
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 107,681,240
GRCh38 X 108,438,010
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_233t1:c.12-17C>T
NM_001287758.2:c.12-17C>T
NM_001287759.2:c.12-17C>T
NM_001287760.2:c.12-17C>T
More... 		11/04/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL4A6
Accession:NM_001847
Location:INTRON

Gene Symbol:COL4A6
Accession:NM_033641
Location:INTRON

Gene Symbol:COL4A6
Accession:NM_001287760
Location:INTRON

Gene Symbol:COL4A6
Accession:NM_001287759
Location:INTRON

Gene Symbol:COL4A6
Accession:NM_001287758
Location:INTRON

Gene Symbol:COL4A6
Accession:XM_006724617
Location:INTRON

Gene Symbol:COL4A6
Accession:XM_011530852
Location:INTRON

Gene Symbol:COL4A6
Accession:XM_011530853
Location:INTRON

Gene Symbol:COL4A6
Accession:XM_011530854
Location:INTRON

Gene Symbol:COL4A6
Accession:XM_047441813
Location:INTRON

Gene Symbol:COL4A6
Accession:XM_047441818
Location:INTRON

Gene Symbol:COL4A6
Accession:XM_047441816
Location:INTRON

Gene Symbol:COL4A6
Accession:XM_047441819
Location:INTRON

Gene Symbol:COL4A6
Accession:XM_047441817
Location:INTRON

Gene Symbol:COL4A6
Accession:XM_047441815
Location:INTRON

Gene Symbol:COL4A6
Accession:XR_001755650
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002101666 CLINVAR
dbSNP (RS) rs765535192 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL4A6 CLINVAR
OMIM 303631 CLINVAR