rs765394872 Rat Genome Database

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Variant: rs765394872 -  Homo sapiens

RGD ID: 11595205
RS ID: rs765394872
ClinVar ID: CV299217
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNRHR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 68,604,851
GRCh38 4 67,739,133
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_009293.1:g.21954A>G
NC_000004.12:g.67739133T>C
NC_000004.11:g.68604851T>C
NM_000406.3:c.*1347A>G
More... 		01/12/2018 3 prime utr variant uncertain significance HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV299217Humanhypogonadotropic hypogonadism 7 with or without anosmia  IAGP 8554872ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmiaClinVar 
Gene Symbol:GNRHR
Accession:NM_000406
Location:3UTRS;EXON

Gene Symbol:GNRHR
Accession:NM_001012763
Location:3UTRS;EXON

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Database
Acc Id
Source(s)
ClinVar RCV000367705 CLINVAR
dbSNP (RS) rs765394872 CLINVAR
MedGen C0342384 CLINVAR
NCBI Gene GNRHR CLINVAR
OMIM 138850 CLINVAR
  146110 CLINVAR