RGD:8598846 Rat Genome Database

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Variant: RGD:8598846 -  Homo sapiens

RGD ID: 8598846
RS ID: rs121964982
ClinVar ID: CV27014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 49,459,656
GRCh38 3 49,422,223
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_015986.1:g.5456G>A
NC_000003.12:g.49422223C>T
NC_000003.11:g.49459656C>T
NP_000472.2:p.Gly47Arg
More...
08/29/2023 500b downstream variant|intron variant|missense|missense variant|non-coding transcript variant pathogenic|likely pathogenic|uncertain significance neonatal/infancy 1-9 / 1 000 000 Glycine encephalopathy; Nonketotic hyperglycinemia
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:AMT
Accession:NM_001164710
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLAHGRKMVAFAGWSLPVQYRDSHTDSHLHTRQHCSLFD
VSHMLQTKILGSDRVKLMESLVVGDIAELRPNQDKVRELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPF
MTSAVMEVFGVSGCRVTRCGYTGEDGVEISVPVAGAVHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEHTTPV
EGSLSWTLGKRRRAAMDFPGAKVIVPQLKGRVQRRRVGLMCEGAPMRAHSPILNMEGTKIGTVTSGCPSPSLKKNVAMGY
VPCEYSRPGTMLLVEVRRKQQMAVVSKMPFVPTNYYTLK*

Gene Symbol:AMT
Accession:NM_001164712
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLAHGRKMVAFAGWSLPVQYRDSHTDSHLHTRQHCSLFD
VSHMLQTKILGSDRVKLMESLVVGDIAELRPNQGTLSLFTNEAGGILDDLIVTNTSEGHLYVVSNAGCWEKDLALMQDKV
RELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPFMTSAVMEVFGVSGCRVTRCGYTGEDGVEISVPVAGA
VHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEHTTPVEGSLSWTLGKRRRAAMDFPGAKVIVPQLKGRVQRRR
VGLMCEGAPMRAHSPILNMEGTKIGTVTSGCPSPSLKKNVAMGYVPCEYSRPGTMLLVELPSGPCF*

Gene Symbol:AMT
Accession:NM_000481
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLAHGRKMVAFAGWSLPVQYRDSHTDSHLHTRQHCSLFD
VSHMLQTKILGSDRVKLMESLVVGDIAELRPNQGTLSLFTNEAGGILDDLIVTNTSEGHLYVVSNAGCWEKDLALMQDKV
RELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPFMTSAVMEVFGVSGCRVTRCGYTGEDGVEISVPVAGA
VHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEHTTPVEGSLSWTLGKRRRAAMDFPGAKVIVPQLKGRVQRRR
VGLMCEGAPMRAHSPILNMEGTKIGTVTSGCPSPSLKKNVAMGYVPCEYSRPGTMLLVEVRRKQQMAVVSKMPFVPTNYY
TLK*

Gene Symbol:AMT
Accession:NR_028435
Location:EXON;NON-CODING

Gene Symbol:AMT
Accession:NM_001164711
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8005589   PMID:23352163   PMID:25741868   PMID:27362913   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012755 CLINVAR
  RCV000622444 CLINVAR
  RCV003230354 CLINVAR
dbSNP (RS) rs121964982 CLINVAR
MedGen C0751748 CLINVAR
  C0950123 CLINVAR
  C5830559 CLINVAR
NCBI Gene AMT CLINVAR
OMIM 238310 CLINVAR
  605899 CLINVAR
  620398 CLINVAR
OMIM Allele 238310.0002 CLINVAR
SNOMED CT 237939006 CLINVAR