RGD:28879331 Rat Genome Database

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Variant: RGD:28879331 -  Homo sapiens

RGD ID: 28879331
RS ID: rs1013540105
ClinVar ID: CV858668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAGEL2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 23,891,277
GRCh38 15 23,646,130
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.9:g.23891277G>T
NM_019066.5:c.1613C>A
NG_016776.1:g.6717C>A
NC_000015.10:g.23646130G>T
More... 		05/05/2020 missense variant pathogenic Arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies; MAGEL2-related Prader-Willi-like syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAGEL2
Accession:NM_019066
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 538
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQLSKNLGDSSPPAEAPKPPVYSRPTVLMRAPPASSRAPPVPWDPPPIDLQASLAAWQAPQPAWEAPQGQLPAPVVPMT
QPPALGGPIVPAPPLGGPMGKPPTPGVLMVHPPPPGAPMAQPPTPGVLMVHPSAPGAPMAHPPPPGTPMSHPPPPGTPMA
HPPPPGTPMAHPPPPGTPMVHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAQPPAPGVLMA
QPLTPGVLMVQPAAPGAPMVQPPPAAMMTQPQPSGAPMAKPPGPGVLMIHPPGARAPMTQPPASGAPMAQPAAPPAQPMA
PPAQPMASWAPQAQPLILQIQSQVIRAPPQVPQGPQAPPAQLATPPGWQATSPGWQATQQGWQATPLTWQTTQVTWQAPA
VTWQVPPPMRQGPPPIRPGPPPIRPGPPPVRQAPPLIRQAPPVIRQAPPVIRQAPPVIRQAPAVIRQAPPVIRQAPPVIR
QAPPVIRQAPPLIRQAPPPIRPAPQVLATQPPLWQALPPPPPLRQAPQARLPAPQVQEAPQVPTAPPATQVPAAPPAGPQ
VPQPVLPAPLSAPLSAPQAVHCPSIIWQAPKGQPPVPHEIPTSMEFQEVQQTQALAWQAQKAPTHIWQPLPAQEAQRQAP
PLVQLEQPFQGAPPSQKAVQIQLPPQQAQASGPQAEVPTLPLQPSWQAPPAVLQAQPGPPVAAANFPLGSAKSLMTPSGE
CRASSIDRRGSSKERRTSSKERRAPSKDRMIFAATFCAPKAVSAARAHLPAAWKNLPATPETFAPSSSVFPATSQFQPAS
LNAFKGPSAASETPKSLPYALQDPFACVEALPAVPWVPQPNMNASKASQAVPTFLMATAAAPQATATTQEASKTSVEPPR
RSGKATRKKKHLEAQEDSRGHTLAFHDWQGPRPWENLNLSDWEVQSPIQVSGDWEHPNTPRGLSGWEGPSTSRILSGWEG
PSASWALSAWEGPSTSRALGLSESPGSSLPVVVSEVASVSPGSSATQDNSKVEAQPLSPLDERANALVQFLLVKDQAKVP
VQRSEMVKVILREYKDECLDIINRANNKLECAFGYQLKEIDTKNHAYIIINKLGYHTGNLVASYLDRPKFGLLMVVLSLI
FMKGNCVREDLIFNFLFKLGLDVRETNGLFGNTKKLITEVFVRQKYLEYRRIPYTEPAEYEFLWGPRAFLETSKMLVLRF
LAKLHKKDPQSWPFHYLEALAECEWEDTDEDEPDTGDSAHGPTSRPPPR*
Variant Samples
Additional References at PubMed
PMID:31397880  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001090063 CLINVAR
dbSNP (RS) rs1013540105 CLINVAR
MedGen C5575066 CLINVAR
NCBI Gene MAGEL2 CLINVAR
OMIM 605283 CLINVAR
  615547 CLINVAR
OMIM Allele 605283.0010 CLINVAR
SNOMED CT 1229946007 CLINVAR