RGD:11658520 Rat Genome Database

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Variant: RGD:11658520 -  Homo sapiens

RGD ID: 11658520
RS ID: rs371417969
ClinVar ID: CV314975
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHD7  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 61,778,511
GRCh38 8 60,865,952
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_176:g.192173C>A
NG_007009.1:g.192173C>A
NC_000008.11:g.60865952C>A
NC_000008.10:g.61778511C>A
More... 		06/14/2016 3 prime utr variant uncertain significance neonatal charge syndrome is an autosomal dominant condition that occurs in 1 in 12,000 live births. HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 5 WITH ANOSMIA; Kallmann syndrome 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHD7
Accession:XM_017013612
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

Gene Symbol:CHD7
Accession:XM_047421947
Location:3UTRS;EXON

Gene Symbol:CHD7
Accession:XM_011517560
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000387722 CLINVAR
dbSNP (RS) rs371417969 CLINVAR
MedGen C3552553 CLINVAR
NCBI Gene CHD7 CLINVAR
OMIM 608892 CLINVAR
  612370 CLINVAR