RGD:155956419 Rat Genome Database

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Variant: RGD:155956419 -  Homo sapiens

RGD ID: 155956419
ClinVar ID: CV2040163
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  GH1  LOC112268204  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 61,995,122
GRCh38 17 63,917,762
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.334G>T
NM_022559.4:c.409G>T
NM_000515.5:c.454G>T
NG_011676.1:g.6077G>T
More... 		05/27/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GH1
Accession:NM_000515
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFEEAYIPKEQKYSFLQNPQTSLCF
SESIPTPSNREETQQKSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTLMRRLEDGSPR
TGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF*

Gene Symbol:GH1
Accession:NM_022560
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFNLELLRISLLLIQSWLEPVQFLR
SVFANSLVYGASDSNVYDLLKDLEEGIQTLMRRLEDGSPRTGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVE
TFLRIVQCRSVEGSCGF*

Gene Symbol:GH1
Accession:NM_022559
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFNPQTSLCFSESIPTPSNREETQQ
KSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTLMRRLEDGSPRTGQIFKQTYSKFDTN
SHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002776041 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GH-LCR CLINVAR
  GH1 CLINVAR
OMIM 139250 CLINVAR