RGD:150508503 Rat Genome Database

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Variant: RGD:150508503 -  Homo sapiens

RGD ID: 150508503
RS ID: rs4812516
ClinVar ID: CV1284298
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHD6  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 40,116,467
GRCh38 20 41,487,827
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032221.5:c.1858-19G>A
NG_050686.1:g.135668G>A
NC_000020.11:g.41487827C>T
NC_000020.10:g.40116467C>T
 08/27/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CHD6
Accession:XM_047440547
Location:INTRON

Gene Symbol:CHD6
Accession:XM_017028102
Location:INTRON

Gene Symbol:CHD6
Accession:XM_017028099
Location:INTRON

Gene Symbol:CHD6
Accession:XM_011529082
Location:INTRON

Gene Symbol:CHD6
Accession:XM_017028100
Location:INTRON

Gene Symbol:CHD6
Accession:XM_011529080
Location:INTRON

Gene Symbol:CHD6
Accession:XM_017028104
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440550
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440551
Location:INTRON

Gene Symbol:CHD6
Accession:XM_017028101
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440545
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440548
Location:INTRON

Gene Symbol:CHD6
Accession:NM_032221
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440546
Location:INTRON

Gene Symbol:CHD6
Accession:XM_005260576
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440549
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001720406 CLINVAR
dbSNP (RS) rs4812516 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CHD6 CLINVAR
OMIM 616114 CLINVAR