RGD:8570012 Rat Genome Database

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Variant: RGD:8570012 -  Homo sapiens

RGD ID: 8570012
RS ID: rs104893841
ClinVar ID: CV31068
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNRHR  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 68,606,244
GRCh38 4 67,740,526
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.20561T>A
NC_000004.12:g.67740526A>T
NC_000004.11:g.68606244A>T
NP_000397.1:p.Leu314Ter
More... 		03/27/2015 3 prime utr variant|nonsense|stop-gain pathogenic infancy|neonatal HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNRHR
Accession:NM_001012763
Location:3UTRS;EXON

Gene Symbol:GNRHR
Accession:NM_000406
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKLQKWTQKKEKGKKLSRMKLLL
KHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVLSYLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMV
GLAWILSSVFAGPQLYIFRMIHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFTLTR
VLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYYVLGIWYWFDPEMLNRLSDPVNHFFFLFAF*NPCFDP
LIYGYFSL*
Variant Samples
Additional References at PubMed
PMID:7557974  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000030913 CLINVAR
dbSNP (RS) rs104893841 CLINVAR
MedGen C0342384 CLINVAR
NCBI Gene GNRHR CLINVAR
OMIM 138850 CLINVAR
  146110 CLINVAR
OMIM Allele 138850.0007 CLINVAR