RGD:8600058 Rat Genome Database

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Variant: RGD:8600058 -  Homo sapiens

RGD ID: 8600058
RS ID: rs121918119
ClinVar ID: CV31031
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHRHR  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 31,013,727
GRCh38 7 30,974,112
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_021416.1:g.15092T>G
NC_000007.14:g.30974112T>G
NC_000007.13:g.31013727T>G
NP_000814.2:p.Phe242Cys
More... 		02/27/2012 missense|missense variant pathogenic neonatal/infancy 1-5 / 10 000 DWARFISM OF SINDH; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GHRHR
Accession:NM_000823
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGSGEWVTLPCPD
FFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCP
RNYVHTQLFTTFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
ACWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHT
QSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLP
AWRTRAKWTTPSRSAAKVLTSMC*
Variant Samples
Additional References at PubMed
PMID:11232012  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017363 CLINVAR
dbSNP (RS) rs121918119 CLINVAR
MedGen C4722273 CLINVAR
NCBI Gene GHRHR CLINVAR
OMIM 139191 CLINVAR
  618157 CLINVAR
OMIM Allele 139191.0004 CLINVAR