RGD:156375549 Rat Genome Database

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Variant: RGD:156375549 -  Homo sapiens

RGD ID: 156375549
ClinVar ID: CV1917536
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 61,995,166
GRCh38 17 63,917,806
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.290A>G
NM_022559.4:c.365A>G
NM_000515.5:c.410A>G
NG_011676.1:g.6033A>G
More... 		11/27/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GH1
Accession:NM_000515
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFEEAYIPKEQKYSFLQNPQTSLCF
SESIPTPSNREETQQKSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVSDLLKDLEEGIQTLMGRLEDGSPR
TGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF*

Gene Symbol:GH1
Accession:NM_022559
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFNPQTSLCFSESIPTPSNREETQQ
KSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVSDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTN
SHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF*

Gene Symbol:GH1
Accession:NM_022560
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFNLELLRISLLLIQSWLEPVQFLR
SVFANSLVYGASDSNVSDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVE
TFLRIVQCRSVEGSCGF*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002603546 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GH-LCR CLINVAR
  GH1 CLINVAR
OMIM 139250 CLINVAR