RGD:126727616 Rat Genome Database

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Variant: RGD:126727616 -  Homo sapiens

RGD ID: 126727616
RS ID: rs1907452711
ClinVar ID: CV1018338
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  GH1  LOC112268204  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 61,995,274
GRCh38 17 63,917,914
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022560.4:c.182T>C
NM_000515.5:c.302T>C
NM_000515.3:c.302T>C
NM_022559.4:c.257T>C
More... 		09/11/2020 missense variant uncertain significance Growth hormone deficiency, isolated autosomal dominant; Idiopathic Growth Hormone Deficiency Type II; IGHD II; Isolated growth hormone deficiency type 2; none provided; Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GH1
Accession:NM_022560
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFNLERLRISLLLIQSWLEPVQFLR
SVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVE
TFLRIVQCRSVEGSCGF*

Gene Symbol:GH1
Accession:NM_000515
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFEEAYIPKEQKYSFLQNPQTSLCF
SESIPTPSNREETQQKSNLERLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPR
TGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF*

Gene Symbol:GH1
Accession:NM_022559
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFNPQTSLCFSESIPTPSNREETQQ
KSNLERLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTN
SHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF*

Gene Symbol:LOC112268204
Accession:XR_002958148
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001332507 CLINVAR
  RCV003229044 CLINVAR
dbSNP (RS) rs1907452711 CLINVAR
MedGen C0271567 CLINVAR
  CN517202 CLINVAR
NCBI Gene GH-LCR CLINVAR
  GH1 CLINVAR
OMIM 139250 CLINVAR
  173100 CLINVAR
SNOMED CT 237687003 CLINVAR