RGD:9693629 Rat Genome Database

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Variant: RGD:9693629 -  Homo sapiens

RGD ID: 9693629
RS ID: rs727505367
ClinVar ID: CV178331
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNRHR  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 68,619,704
GRCh38 4 67,753,986
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009293.1:g.7101T>G
NC_000004.12:g.67753986A>C
NC_000004.11:g.68619704A>C
NP_000397.1:p.Leu117Arg
More... 		05/31/2019 missense variant pathogenic|likely pathogenic HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GNRHR
Accession:NM_001012763
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKLQKWTQKKEKGKKLSRMKLLL
KHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVRSYLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMV
GLAWILSSVFAGPQLPLHHPSFHHADLQCKNHLHPDTGPSSGPPRTTTESVQEQYTKSTAEDSKNDGCICHFIYCLLDSL
LCPRNLVLV*

Gene Symbol:GNRHR
Accession:NM_000406
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKLQKWTQKKEKGKKLSRMKLLL
KHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVRSYLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMV
GLAWILSSVFAGPQLYIFRMIHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFTLTR
VLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYYVLGIWYWFDPEMLNRLSDPVNHFFFLFAFLNPCFDP
LIYGYFSL*
Variant Samples
Additional References at PubMed
PMID:25636053  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000156945 CLINVAR
  RCV000995775 CLINVAR
dbSNP (RS) rs727505367 CLINVAR
MedGen C0034012 CLINVAR
  C0342384 CLINVAR
NCBI Gene GNRHR CLINVAR
OMIM 138850 CLINVAR
  146110 CLINVAR