RGD:156056757 Rat Genome Database

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Variant: RGD:156056757 -  Homo sapiens

RGD ID: 156056757
ClinVar ID: CV1892102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHRHR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 31,013,624
GRCh38 7 30,974,009
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000823.4:c.622G>A
NG_021416.1:g.14989G>A
NC_000007.14:g.30974009G>A
NC_000007.13:g.31013624G>A
More... 		09/27/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GHRHR
Accession:NM_000823
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGSGEWVTLPCPD
FFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCP
RNYVHTQLFTTFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVATSHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHT
QSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLP
AWRTRAKWTTPSRSAAKVLTSMC*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:28910730  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003079075 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GHRHR CLINVAR
OMIM 139191 CLINVAR