RGD:15128538 Rat Genome Database

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Variant: RGD:15128538 -  Homo sapiens

RGD ID: 15128538
RS ID: rs138148374
ClinVar ID: CV717854
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NONO  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,518,564
GRCh38 X 71,298,714
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145410.2:c.912G>T
NM_001145408.2:c.1179G>T
NM_001145409.2:c.1179G>T
NM_007363.5:c.1179G>T
More... 		10/02/2019 missense variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:NONO
Accession:NM_001145409
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSNKTFNLEKQNHTPRKHHQHHHQQQHHQQQQQQPPPPPIPANGQQASSQNEGLTIDLKNFRKPGEKTFTQRSRLFVGN
LPPDITEEEMRKLFEKYGKAGEVFIHKDKGFGFIRLETRTLAEIAKVELDNMPLRGKQLRVRFACHSASLTVRNLPQYVS
NELLEEAFSVFGQVERAVVIVDDRGRPSGKGIVEFSGKPAARKALDRCSEGSFLLTTFPRPVTVEPMDQLDDEEGLPEKL
VIKNQQFHKEREQPPRFAQPGSFEYEYAMRWKALIEMEKQQQDQVDRNIKEAREKLEMEMEAARHEHQVMLMRQDLMRRQ
EELRRMEELHNQEVQKRKQLELRQEEERRRREEEMRRQQEEMMRRQQEGFKGTFPDAREQEIRMGQMAMGGAIGINNRGA
MPPAPVPAGTPAPPGPATMMPDGTLGLTPPTTERFGQAATMEGIGAIGGTPPAFNRAAPGAEFAPNKRRRY*

Gene Symbol:NONO
Accession:NM_001145408
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSNKTFNLEKQNHTPRKHHQHHHQQQHHQQQQQQPPPPPIPANGQQASSQNEGLTIDLKNFRKPGEKTFTQRSRLFVGN
LPPDITEEEMRKLFEKYGKAGEVFIHKDKGFGFIRLETRTLAEIAKVELDNMPLRGKQLRVRFACHSASLTVRNLPQYVS
NELLEEAFSVFGQVERAVVIVDDRGRPSGKGIVEFSGKPAARKALDRCSEGSFLLTTFPRPVTVEPMDQLDDEEGLPEKL
VIKNQQFHKEREQPPRFAQPGSFEYEYAMRWKALIEMEKQQQDQVDRNIKEAREKLEMEMEAARHEHQVMLMRQDLMRRQ
EELRRMEELHNQEVQKRKQLELRQEEERRRREEEMRRQQEEMMRRQQEGFKGTFPDAREQEIRMGQMAMGGAIGINNRGA
MPPAPVPAGTPAPPGPATMMPDGTLGLTPPTTERFGQAATMEGIGAIGGTPPAFNRAAPGAEFAPNKRRRY*

Gene Symbol:NONO
Accession:NM_001145410
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 304
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKLFEKYGKAGEVFIHKDKGFGFIRLETRTLAEIAKVELDNMPLRGKQLRVRFACHSASLTVRNLPQYVSNELLEEAFS
VFGQVERAVVIVDDRGRPSGKGIVEFSGKPAARKALDRCSEGSFLLTTFPRPVTVEPMDQLDDEEGLPEKLVIKNQQFHK
EREQPPRFAQPGSFEYEYAMRWKALIEMEKQQQDQVDRNIKEAREKLEMEMEAARHEHQVMLMRQDLMRRQEELRRMEEL
HNQEVQKRKQLELRQEEERRRREEEMRRQQEEMMRRQQEGFKGTFPDAREQEIRMGQMAMGGAIGINNRGAMPPAPVPAG
TPAPPGPATMMPDGTLGLTPPTTERFGQAATMEGIGAIGGTPPAFNRAAPGAEFAPNKRRRY*

Gene Symbol:NONO
Accession:NM_007363
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSNKTFNLEKQNHTPRKHHQHHHQQQHHQQQQQQPPPPPIPANGQQASSQNEGLTIDLKNFRKPGEKTFTQRSRLFVGN
LPPDITEEEMRKLFEKYGKAGEVFIHKDKGFGFIRLETRTLAEIAKVELDNMPLRGKQLRVRFACHSASLTVRNLPQYVS
NELLEEAFSVFGQVERAVVIVDDRGRPSGKGIVEFSGKPAARKALDRCSEGSFLLTTFPRPVTVEPMDQLDDEEGLPEKL
VIKNQQFHKEREQPPRFAQPGSFEYEYAMRWKALIEMEKQQQDQVDRNIKEAREKLEMEMEAARHEHQVMLMRQDLMRRQ
EELRRMEELHNQEVQKRKQLELRQEEERRRREEEMRRQQEEMMRRQQEGFKGTFPDAREQEIRMGQMAMGGAIGINNRGA
MPPAPVPAGTPAPPGPATMMPDGTLGLTPPTTERFGQAATMEGIGAIGGTPPAFNRAAPGAEFAPNKRRRY*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000964101 CLINVAR
  RCV001819055 CLINVAR
dbSNP (RS) rs138148374 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene NONO CLINVAR
OMIM 300084 CLINVAR