RGD:8600056 Rat Genome Database

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Variant: RGD:8600056 -  Homo sapiens

RGD ID: 8600056
RS ID: rs121918117
ClinVar ID: CV31028
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHRHR  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 31,008,731
GRCh38 7 30,969,116
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.10096G>T
NC_000007.14:g.30969116G>T
NC_000007.13:g.31008731G>T
NP_000814.2:p.Glu72Ter
More... 		01/03/2022 nonsense|stop-gain pathogenic neonatal/infancy 1-5 / 10 000 DWARFISM OF SINDH; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GHRHR
Accession:NM_000823
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGSG*WVTLPCPD
FFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCP
RNYVHTQLFTTFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHT
QSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLP
AWRTRAKWTTPSRSAAKVLTSMC*
Variant Samples
Additional References at PubMed
PMID:8528260   PMID:9467553   PMID:9814493   PMID:12444890   PMID:12788864   PMID:12794696   PMID:16355809   PMID:25153028   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017360 CLINVAR
  RCV001851885 CLINVAR
dbSNP (RS) rs121918117 CLINVAR
MedGen C3661900 CLINVAR
  C4722273 CLINVAR
NCBI Gene GHRHR CLINVAR
OMIM 139191 CLINVAR
  618157 CLINVAR
OMIM Allele 139191.0001 CLINVAR