RGD:11584208 Rat Genome Database

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Variant: RGD:11584208 -  Homo sapiens

RGD ID: 11584208
RS ID: rs201804261
ClinVar ID: CV303980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 42,565,967
GRCh38 5 42,565,865
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
NM_001242399.2:c.12T>C
NC_000005.10:g.42565865T>C
NC_000005.9:g.42565967T>C
NP_001229328.1:p.Gly4=
More... 		06/14/2016 5 prime utr variant uncertain significance infancy 1-9 / 1 000 000 Growth hormone binding protein deficiency or dysfunction; Growth hormone receptor deficiency; Growth hormone receptor deficiency or dysfunction; Laron dwarfism; Laron Syndrome; Laron type pituitary dwarfism I
Disease Annotations     Click to see Annotation Detail View
Laron syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:GHR
Accession:NM_001242404
Location:5UTRS;EXON

Gene Symbol:GHR
Accession:NM_001242462
Location:5UTRS;EXON

Gene Symbol:GHR
Accession:NM_001242402
Location:5UTRS;EXON

Gene Symbol:GHR
Accession:NM_000163
Location:5UTRS;EXON

Gene Symbol:GHR
Accession:NM_001242401
Location:5UTRS;EXON

Gene Symbol:GHR
Accession:NM_001242405
Location:5UTRS;EXON

Gene Symbol:GHR
Accession:NM_001242403
Location:5UTRS;EXON

Gene Symbol:GHR
Accession:NM_001242400
Location:5UTRS;EXON

Gene Symbol:GHR
Accession:NM_001242406
Location:5UTRS;EXON

Gene Symbol:GHR
Accession:NM_001242460
Location:5UTRS;EXON

Gene Symbol:GHR
Accession:NM_001242399
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWGPTGMDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTNSSKEPKFTKCRSPERETFSCHWTDEVH
HGTKNLGPIQLFYTRRNTQEWTQEWKECPDYVSAGENSCYFNSSFTSIWIPYCIKLTSNGGTVDEKCFSVDEIVQPDPPI
ALNWTLLNVSLTGIHADIQVRWEAPRNADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVYSLKVDKEYEVRVRSK
QRNSGNYGEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTVMLFVFLFSKQQRIKMLILPPVPVPKIKGIDPDL
LKEGKLEEVNTILAIHDSYKPEFHSDDSWVEFIELDIDEPDEKTEESDTDRLLSSDHEKSHSNLGVKDGDSGRTSCCEPD
ILETDFNANDIHEGTSEVAQPQRLKGEADLLCLDQKNQNNSPYHDACPATQQPSVIQAEKNKPQPLPTEGAESTHQAAHI
QLSNPSSLSNIDFYAQVSDITPAGSVVLSPGQKNKAGMSQCDMHPEMVSLCQENFLMDNAYFCEADAKKCIPVAPHIKVE
SHIQPSLNQEDIYITTESLTTAAGRPGTGEHVPGSEMPVPDYTSIHIVQSPQGLILNATALPLPDKEFLSSCGYVSTDQL
NKIMP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000272021 CLINVAR
dbSNP (RS) rs201804261 CLINVAR
MedGen C0271568 CLINVAR
NCBI Gene GHR CLINVAR
OMIM 262500 CLINVAR
  600946 CLINVAR
SNOMED CT 38196001 CLINVAR