RGD:11579065 Rat Genome Database

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Variant: RGD:11579065 -  Homo sapiens

RGD ID: 11579065
RS ID: rs10227922
ClinVar ID: CV271375
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHRHR  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 31,011,625
GRCh38 7 30,972,010
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021416.1:g.12990C>G
NC_000007.14:g.30972010C>G
NC_000007.13:g.31011625C>G
NP_000814.2:p.Thr171Ser
More... 		01/27/2022 missense variant conflicting interpretations of pathogenicity|uncertain significance IGHD 1B; IGHD IB; Isolated growth hormone deficiency type 1B; 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: T to S (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGSGEWVTLPCPD
FFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCP
RNYVHTQLFTSFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHT
QSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLP
AWRTRAKWTTPSRSAAKVLTSMC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000294743 CLINVAR
  RCV000725955 CLINVAR
dbSNP (RS) rs10227922 CLINVAR
MedGen C2748571 CLINVAR
  C3661900 CLINVAR
NCBI Gene GHRHR CLINVAR
OMIM 139191 CLINVAR
  612781 CLINVAR