RGD:28869033 Rat Genome Database

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Variant: RGD:28869033 -  Homo sapiens

RGD ID: 28869033
RS ID: rs377182945
ClinVar ID: CV897997
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHRHR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 31,011,693
GRCh38 7 30,972,078
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.30972078C>T
NC_000007.13:g.31011693C>T
NM_000823.3:c.580C>T
NG_021416.1:g.13058C>T
More... 		11/08/2022 missense variant likely benign|uncertain significance IGHD 1B; IGHD IB; Isolated growth hormone deficiency type 1B
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GHRHR
Accession:NM_000823
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGSGEWVTLPCPD
FFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCP
RNYVHTQLFTTFILKAGAVFLKDAALFHSDDTDYCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHT
QSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLP
AWRTRAKWTTPSRSAAKVLTSMC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001162868 CLINVAR
  RCV002559559 CLINVAR
dbSNP (RS) rs377182945 CLINVAR
MedGen C0950123 CLINVAR
  C2748571 CLINVAR
NCBI Gene GHRHR CLINVAR
OMIM 139191 CLINVAR
  612781 CLINVAR