RGD:15117928 Rat Genome Database

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Variant: RGD:15117928 -  Homo sapiens

RGD ID: 15117928
RS ID: rs369485705
ClinVar ID: CV745316
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHD6  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 40,043,818
GRCh38 20 41,415,178
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.6939+8T>C
NG_050686.1:g.208317T>C
NC_000020.11:g.41415178A>G
NC_000020.10:g.40043818A>G
More... 		01/30/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CHD6
Accession:NM_032221
Location:INTRON

Gene Symbol:CHD6
Accession:XM_011529080
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440548
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440550
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440551
Location:INTRON

Gene Symbol:CHD6
Accession:XM_017028099
Location:INTRON

Gene Symbol:CHD6
Accession:XM_017028104
Location:INTRON

Gene Symbol:CHD6
Accession:XM_011529082
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440545
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440546
Location:INTRON

Gene Symbol:CHD6
Accession:XM_005260576
Location:INTRON

Gene Symbol:CHD6
Accession:XM_017028101
Location:INTRON

Gene Symbol:CHD6
Accession:XM_017028100
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440547
Location:INTRON

Gene Symbol:CHD6
Accession:XM_017028102
Location:INTRON

Gene Symbol:CHD6
Accession:XM_047440549
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000895460 CLINVAR
dbSNP (RS) rs369485705 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CHD6 CLINVAR
OMIM 616114 CLINVAR