RGD:9686521 Rat Genome Database

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Pathways
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Variant: RGD:9686521 -  Homo sapiens

RGD ID: 9686521
RS ID: rs606231413
ClinVar ID: CV171273
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHRHR  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 31,011,608
GRCh38 7 30,971,993
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.12973C>A
NC_000007.14:g.30971993C>A
NC_000007.13:g.31011608C>A
c.543C>A/p.H165Q
More... 		04/22/2013 missense variant likely pathogenic neonatal/infancy 1-5 / 10 000 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 Q (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGSGEWVTLPCPD
FFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCP
RNYVQTQLFTTFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHT
QSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLP
AWRTRAKWTTPSRSAAKVLTSMC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000148942 CLINVAR
dbSNP (RS) rs606231413 CLINVAR
MedGen C2748571 CLINVAR
NCBI Gene GHRHR CLINVAR
OMIM 139191 CLINVAR
  612781 CLINVAR