rs28933074 Rat Genome Database

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Variant: rs28933074 -  Homo sapiens

RGD ID: 8570008
RS ID: rs28933074
ClinVar ID: CV31064
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNRHR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 68,606,334
GRCh38 4 67,740,616
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Trait Synonyms
NG_009293.1:g.20471A>G
NC_000004.12:g.67740616T>C
NC_000004.11:g.68606334T>C
NP_000397.1:p.Tyr284Cys
More... 		08/10/2021 missense|missense variant|synonymous variant pathogenic|likely pathogenic infancy|neonatal HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV31064Humanhypogonadotropic hypogonadism 7 with or without anosmia  IAGP 8554872ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmiaClinVarPMID:25741868 and PMID:9425890
Gene Symbol:GNRHR
Accession:NM_001012763
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKLQKWTQKKEKGKKLSRMKLLL
KHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVLSYLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMV
GLAWILSSVFAGPQLPLHHPSFHHADLQCKNHLHPDTGPSSGPPRTTTESVQEQYTKSTAEDSKNDGCICHFIYCLLDSL
LCPRNLVLV*

Gene Symbol:GNRHR
Accession:NM_000406
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKLQKWTQKKEKGKKLSRMKLLL
KHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVLSYLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMV
GLAWILSSVFAGPQLYIFRMIHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFTLTR
VLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYCVLGIWYWFDPEMLNRLSDPVNHFFFLFAFLNPCFDP
LIYGYFSL*
.
PMID:9425890   PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV000030909 CLINVAR
dbSNP (RS) rs28933074 CLINVAR
MedGen C0342384 CLINVAR
NCBI Gene GNRHR CLINVAR
OMIM 138850 CLINVAR
  146110 CLINVAR
OMIM Allele 138850.0003 CLINVAR