RGD:401859956 Rat Genome Database

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Variant: RGD:401859956 -  Homo sapiens

RGD ID: 401859956
ClinVar ID: CV2765222
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RCN3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 50,045,887
GRCh38 19 49,542,630
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.49542630C>T
NC_000019.9:g.50045887C>T
NM_020650.2:c.757C>T
NP_065701.2:p.Arg253Trp
More... 		08/20/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:RCN3
Accession:NM_020650
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMWRPSVLLLLLLLRHGAQGKPSPDAGPHGQGRVHQAAPLSDAPHDDAHGNFQYDHEAFLGREVAKEFDQLTPEESQARL
GRIVDRMDRAGDGDGWVSLAELRAWIAHTQQRHIRDSVSAAWDTYDTDRDGRVGWEELRNATYGHYAPGEEFHDVEDAET
YKKMLARDERRFRVADQDGDSMATREELTAFLHPEEFPHMRDIVIAETLEDLDRNKDGYVQVEEYIADLYSAEPGEEEPA
WVQTERQQFRDFWDLNKDGHLDGSEVGHWVLPPAQDQPLVEANHLLHESDTDKDGRLSKAEILGNWNMFVGSQATNYGED
LTRHHDEL*

Gene Symbol:RCN3
Accession:XM_047439115
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMWRPSVLLLLLLLRHGAQGKPSPDAGPHGQGRVHQAAPLSDAPHDDAHGNFQYDHEAFLGREVAKEFDQLTPEESQARL
GRIVDRMDRAGDGDGWVSLAELRAWIAHTQQRHIRDSVSAAWDTYDTDRDGRVGWEELRNATYGHYAPGEEFHDVEDAET
YKKMLARDERRFRVADQDGDSMATREELTAFLHPEEFPHMRDIVIALPGAKFPREPLTLTPGVQPPPGARVIGPQPQCPF
LLQETLEDLDRNKDGYVQVEEYIADLYSAEPGEEEPAWVQTERQQFRDFWDLNKDGHLDGSEVGHWVLPPAQDQPLVEAN
HLLHESDTDKDGRLSKAEILGNWNMFVGSQATNYGEDLTRHHDEL*

Gene Symbol:RCN3
Accession:XM_024451620
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMWRPSVLLLLLLLRHGAQGKPSPDAGPHGQGRVHQAAPLSDAPHDDAHGNFQYDHEAFLGREVAKEFDQLTPEESQARL
GRIVDRMDRAGDGDGWVSLAELRAWIAHTQQRHIRDSVSAAWDTYDTDRDGRVGWEELRNATYGHYAPGEEFHDVEDAET
YKKMLARDERRFRVADQDGDSMATREELTAFLHPEEFPHMRDIVIALPGAKFPREPLTLTPGVQPPPGARVIGPQPQCPF
LLQETLEDLDRNKDGYVQVEEYIADLYSAEPGEEEPAWVQTERQQFRDFWDLNKDGHLDGSEVGHWVLPPAQDQPLVEAN
HLLHESDTDKDGRLSKAEILGNWNMFVGSQATNYGEDLTRHHDEL*

Gene Symbol:RCN3
Accession:XM_047439116
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMWRPSVLLLLLLLRHGAQGKPSPDAGPHGQGRVHQAAPLSDAPHDDAHGNFQYDHEAFLGREVAKEFDQLTPEESQARL
GRIVDRMDRAGDGDGWVSLAELRAWIAHTQQRHIRDSVSAAWDTYDTDRDGRVGWEELRNATYGHYAPGEEFHDVEDAET
YKKMLARDERRFRVADQDGDSMATREELTAFLHPEEFPHMRDIVIALPGAKFPREPLTLTPGVQPPPGARVIGPQPQCPF
LLQETLEDLDRNKDGYVQVEEYIADLYSAEPGEEEPAWVQTERQQFRDFWDLNKDGHLDGSEVGHWVLPPAQDQPLVEAN
HLLHESDTDKDGRLSKAEILGNWNMFVGSQATNYGEDLTRHHDEL*

Gene Symbol:RCN3
Accession:XM_047439117
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMWRPSVLLLLLLLRHGAQGKPSPDAGPHGQGRVHQAAPLSDAPHDDAHGNFQYDHEAFLGREVAKEFDQLTPEESQARL
GRIVDRMDRAGDGDGWVSLAELRAWIAHTQQRHIRDSVSAAWDTYDTDRDGRVGWEELRNATYGHYAPGEEFHDVEDAET
YKKMLARDERRFRVADQDGDSMATREELTAFLHPEEFPHMRDIVIAETLEDLDRNKDGYVQVEEYIADLYSAEPGEEEPA
WVQTERQQFRDFWDLNKDGHLDGSEVGHWVLPPAQDQPLVEANHLLHESDTDKDGRLSKAEILGNWNMFVGSQATNYGED
LTRHHDEL*

Gene Symbol:RCN3
Accession:XM_047439118
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMWRPSVLLLLLLLRHGAQGKPSPDAGPHGQGRVHQAAPLSDAPHDDAHGNFQYDHEAFLGREVAKEFDQLTPEESQARL
GRIVDRMDRAGDGDGWVSLAELRAWIAHTQQRHIRDSVSAAWDTYDTDRDGRVGWEELRNATYGHYAPGEEFHDVEDAET
YKKMLARDERRFRVADQDGDSMATREELTAFLHPEEFPHMRDIVIAETLEDLDRNKDGYVQVEEYIADLYSAEPGEEEPA
WVQTERQQFRDFWDLNKDGHLDGSEVGHWVLPPAQDQPLVEANHLLHESDTDKDGRLSKAEILGNWNMFVGSQATNYGED
LTRHHDEL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004339749 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene RCN3 CLINVAR
OMIM 619032 CLINVAR