RGD:28873185 Rat Genome Database

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Variant: RGD:28873185 -  Homo sapiens

RGD ID: 28873185
RS ID: rs45573835
ClinVar ID: CV899895
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHD7  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 61,779,635
GRCh38 8 60,867,076
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017780.3:c.*1143A>G
NM_001316690.1:c.*1143A>G
LRG_176:g.193297A>G
NC_000008.10:g.61779635A>G
More... 		02/01/2023 3 prime utr variant benign|likely benign|uncertain significance HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 5 WITH ANOSMIA; Kallmann syndrome 5; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHD7
Accession:XM_047421947
Location:3UTRS;EXON

Gene Symbol:CHD7
Accession:NM_001316690
Location:3UTRS;EXON

Gene Symbol:CHD7
Accession:XM_011517553
Location:3UTRS;EXON

Gene Symbol:CHD7
Accession:XM_011517554
Location:3UTRS;EXON

Gene Symbol:CHD7
Accession:XM_047421945
Location:3UTRS;EXON

Gene Symbol:CHD7
Accession:XM_011517555
Location:3UTRS;EXON

Gene Symbol:CHD7
Accession:NM_017780
Location:3UTRS;EXON

Gene Symbol:CHD7
Accession:XM_017013613
Location:3UTRS;EXON

Gene Symbol:CHD7
Accession:XM_047421946
Location:3UTRS;EXON

Gene Symbol:CHD7
Accession:XM_017013612
Location:3UTRS;EXON

Gene Symbol:CHD7
Accession:XM_011517560
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001164765 CLINVAR
  RCV002512141 CLINVAR
dbSNP (RS) rs45573835 CLINVAR
MedGen C3552553 CLINVAR
  C3661900 CLINVAR
NCBI Gene CHD7 CLINVAR
OMIM 608892 CLINVAR
  612370 CLINVAR