RGD:8570011 Rat Genome Database

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Variant: RGD:8570011 -  Homo sapiens

RGD ID: 8570011
RS ID: rs104893840
ClinVar ID: CV31067
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNRHR  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 68,619,550
GRCh38 4 67,753,832
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_009293.1:g.7255T>A
NC_000004.12:g.67753832A>T
NC_000004.11:g.68619550A>T
NP_000397.1:p.Ser168Arg
More... 		03/08/2021 missense|missense variant pathogenic|uncertain significance infancy|neonatal HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Amenorrhea  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:GNRHR
Accession:NM_001012763
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKLQKWTQKKEKGKKLSRMKLLL
KHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVLSYLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMV
GLAWILSRVFAGPQLPLHHPSFHHADLQCKNHLHPDTGPSSGPPRTTTESVQEQYTKSTAEDSKNDGCICHFIYCLLDSL
LCPRNLVLV*

Gene Symbol:GNRHR
Accession:NM_000406
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKLQKWTQKKEKGKKLSRMKLLL
KHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVLSYLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMV
GLAWILSRVFAGPQLYIFRMIHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFTLTR
VLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYYVLGIWYWFDPEMLNRLSDPVNHFFFLFAFLNPCFDP
LIYGYFSL*
Variant Samples
Additional References at PubMed
PMID:10523035   PMID:32870266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000030912 CLINVAR
  RCV001849269 CLINVAR
dbSNP (RS) rs104893840 CLINVAR
MedGen C0002453 CLINVAR
  C0342384 CLINVAR
NCBI Gene GNRHR CLINVAR
OMIM 138850 CLINVAR
  146110 CLINVAR
OMIM Allele 138850.0006 CLINVAR