RGD:156397811 Rat Genome Database

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Variant: RGD:156397811 -  Homo sapiens

RGD ID: 156397811
ClinVar ID: CV2193751
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHRHR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 31,011,684
GRCh38 7 30,972,069
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.571G>A
NG_021416.1:g.13049G>A
NC_000007.14:g.30972069G>A
NC_000007.13:g.31011684G>A
More... 		10/12/2021 missense variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GHRHR
Accession:NM_000823
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGSGEWVTLPCPD
FFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCP
RNYVHTQLFTTFILKAGAVFLKDAALFHSDNTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHT
QSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLP
AWRTRAKWTTPSRSAAKVLTSMC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002655282 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene GHRHR CLINVAR
OMIM 139191 CLINVAR