RGD:11039912 Rat Genome Database

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Variant: RGD:11039912 -  Homo sapiens

RGD ID: 11039912
RS ID: rs869025345
ClinVar ID: CV223782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NONO  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,517,750
GRCh38 X 71,297,900
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007363.5:c.1093C>T
NP_001138882.1:p.Arg276Ter
NP_001138881.1:p.Arg365Ter
NP_031389.3:p.Arg365Ter
More... 		06/08/2017 nonsense pathogenic Intellectual developmental disorder, X-linked syndromic 34; MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NONO
Accession:NM_001145410
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKLFEKYGKAGEVFIHKDKGFGFIRLETRTLAEIAKVELDNMPLRGKQLRVRFACHSASLTVRNLPQYVSNELLEEAFS
VFGQVERAVVIVDDRGRPSGKGIVEFSGKPAARKALDRCSEGSFLLTTFPRPVTVEPMDQLDDEEGLPEKLVIKNQQFHK
EREQPPRFAQPGSFEYEYAMRWKALIEMEKQQQDQVDRNIKEAREKLEMEMEAARHEHQVMLMRQDLMRRQEELRRMEEL
HNQEVQKRKQLELRQEEERRRREEEMRRQQEEMMR*QQEGFKGTFPDAREQEIRMGQMAMGGAMGINNRGAMPPAPVPAG
TPAPPGPATMMPDGTLGLTPPTTERFGQAATMEGIGAIGGTPPAFNRAAPGAEFAPNKRRRY*

Gene Symbol:NONO
Accession:NM_001145408
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSNKTFNLEKQNHTPRKHHQHHHQQQHHQQQQQQPPPPPIPANGQQASSQNEGLTIDLKNFRKPGEKTFTQRSRLFVGN
LPPDITEEEMRKLFEKYGKAGEVFIHKDKGFGFIRLETRTLAEIAKVELDNMPLRGKQLRVRFACHSASLTVRNLPQYVS
NELLEEAFSVFGQVERAVVIVDDRGRPSGKGIVEFSGKPAARKALDRCSEGSFLLTTFPRPVTVEPMDQLDDEEGLPEKL
VIKNQQFHKEREQPPRFAQPGSFEYEYAMRWKALIEMEKQQQDQVDRNIKEAREKLEMEMEAARHEHQVMLMRQDLMRRQ
EELRRMEELHNQEVQKRKQLELRQEEERRRREEEMRRQQEEMMR*QQEGFKGTFPDAREQEIRMGQMAMGGAMGINNRGA
MPPAPVPAGTPAPPGPATMMPDGTLGLTPPTTERFGQAATMEGIGAIGGTPPAFNRAAPGAEFAPNKRRRY*

Gene Symbol:NONO
Accession:NM_007363
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSNKTFNLEKQNHTPRKHHQHHHQQQHHQQQQQQPPPPPIPANGQQASSQNEGLTIDLKNFRKPGEKTFTQRSRLFVGN
LPPDITEEEMRKLFEKYGKAGEVFIHKDKGFGFIRLETRTLAEIAKVELDNMPLRGKQLRVRFACHSASLTVRNLPQYVS
NELLEEAFSVFGQVERAVVIVDDRGRPSGKGIVEFSGKPAARKALDRCSEGSFLLTTFPRPVTVEPMDQLDDEEGLPEKL
VIKNQQFHKEREQPPRFAQPGSFEYEYAMRWKALIEMEKQQQDQVDRNIKEAREKLEMEMEAARHEHQVMLMRQDLMRRQ
EELRRMEELHNQEVQKRKQLELRQEEERRRREEEMRRQQEEMMR*QQEGFKGTFPDAREQEIRMGQMAMGGAMGINNRGA
MPPAPVPAGTPAPPGPATMMPDGTLGLTPPTTERFGQAATMEGIGAIGGTPPAFNRAAPGAEFAPNKRRRY*

Gene Symbol:NONO
Accession:NM_001145409
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSNKTFNLEKQNHTPRKHHQHHHQQQHHQQQQQQPPPPPIPANGQQASSQNEGLTIDLKNFRKPGEKTFTQRSRLFVGN
LPPDITEEEMRKLFEKYGKAGEVFIHKDKGFGFIRLETRTLAEIAKVELDNMPLRGKQLRVRFACHSASLTVRNLPQYVS
NELLEEAFSVFGQVERAVVIVDDRGRPSGKGIVEFSGKPAARKALDRCSEGSFLLTTFPRPVTVEPMDQLDDEEGLPEKL
VIKNQQFHKEREQPPRFAQPGSFEYEYAMRWKALIEMEKQQQDQVDRNIKEAREKLEMEMEAARHEHQVMLMRQDLMRRQ
EELRRMEELHNQEVQKRKQLELRQEEERRRREEEMRRQQEEMMR*QQEGFKGTFPDAREQEIRMGQMAMGGAMGINNRGA
MPPAPVPAGTPAPPGPATMMPDGTLGLTPPTTERFGQAATMEGIGAIGGTPPAFNRAAPGAEFAPNKRRRY*
Variant Samples
Additional References at PubMed
PMID:26571461   PMID:27550220  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000207521 CLINVAR
dbSNP (RS) rs869025345 CLINVAR
MedGen C4225417 CLINVAR
NCBI Gene NONO CLINVAR
OMIM 300084 CLINVAR
  300967 CLINVAR
OMIM Allele 300084.0003 CLINVAR