RGD:13804968 Rat Genome Database

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Variant: RGD:13804968 -  Homo sapiens

RGD ID: 13804968
RS ID: rs1215112413
ClinVar ID: CV572231
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFIX  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 13,189,459
GRCh38 19 13,078,645
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001365982.2:c.955+2974G>A
NM_001271044.3:c.964G>A
NM_001365984.2:c.985G>A
NM_001365985.2:c.985G>A
More... 		07/26/2017 intron variant uncertain significance Malan overgrowth syndrome; MALAN SYNDROME; Sotos syndrome 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NFIX
Accession:NM_001271043
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEMSWARQSLAGIPAACDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWA
SRLLAKLRKDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYK
SPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHLSFQDCFVTSGVWNVTELVRVSQ
TPVATASGPNFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGW
PNDVDAGPASLKKSGKLNFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYH
HHHGQDSLKEFVQFVCSDGSGQATGQPNGSGQGKVPGSFLLPPPPPVARPVPLPMPDSKSTSTAPDGAALTPPSPSFATT
GASSANRFVSIGPRDGNFLNIPQQSQSWFL*

Gene Symbol:NFIX
Accession:NM_001271044
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFR
EDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHI
GVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHLSFQDCFVTSGVWNVTELVRVSQTPVATASGPNFSLADL
ESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPNDVDAGPASLKKSGK
LNFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSLKEFVQFVC
SDGSGQATGQHSQRQAPPLPTGLSASDPGTATF*

Gene Symbol:NFIX
Accession:NM_001378404
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFR
EDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHI
GVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHLSFQDCFVTSGVWNVTELVRVSQTPVATASGPNFSLADL
ESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPNDVDAGPASLKKSGK
LNFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSLKEFVQFVC
SDGSGQATGQPNGSGQGKVPGSFLLPPPPPVARPVPLPMPDSKSTSTAPDGAALTPPSPSFATTGASSANRFVSIGPRDG
NFLNIPQQSQSWFL*

Gene Symbol:NFIX
Accession:NM_001365985
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 329
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPACRLQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRK
DIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGL
CVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHLSFQDCFVTSGVWNVTELVRVSQTPVATASGP
NFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPNDVDAGPA
SLKKSGKLNFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSLK
EFVQFVCSDGSGQATGQHSQRQAPPLPTGLSASDPGTATF*

Gene Symbol:NFIX
Accession:NM_002501
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 330
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLR
KDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPG
LCVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHLSFQDCFVTSGVWNVTELVRVSQTPVATASG
PNFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPNDVDAGP
ASLKKSGKLNFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSL
KEFVQFVCSDGSGQATGQHSQRQAPPLPTGLSASDPGTATF*

Gene Symbol:NFIX
Accession:NM_001378405
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 346
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGATEPGGDTSSVCVWTATLSVRVCDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEK
PEIKQKWASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLES
TDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHLSFQDCFVTSGVWNV
TELVRVSQTPVATASGPNFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAA
GSSQSSGWPNDVDAGPASLKKSGKLNFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYF
THPTIRYHHHHGQDSLKEFVQFVCSDGSGQATGQPNGSGQGKVPGSFLLPPPPPVARPVPLPMPDSKSTSTAPDGAALTP
PSPSFATTGASSANRFVSIGPRDGNFLNIPQQSQSWFL*

Gene Symbol:NFIX
Accession:NM_001365984
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 329
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPACRLQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRK
DIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGL
CVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHLSFQDCFVTSGVWNVTELVRVSQTPVATASGP
NFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPNDVDAGPA
SLKKSGKLNFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSLK
EFVQFVCSDGSGQATGQPNGSGQGKVPGSFLLPPPPPVARPVPLPMPDSKSTSTAPDGAALTPPSPSFATTGASSANRFV
SIGPRDGNFLNIPQQSQSWFL*

Gene Symbol:NFIX
Accession:NM_001365983
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVW
RLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPN
GHLSFQDCFVTSGVWNVTELVRVSQTPVATASGPNFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEME
SPVDDVFYPGTGRSPAAGSSQSSGWPNDVDAGPASLKKSGKLNFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATAS
ALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSLKEFVQFVCSDGSGQATGQHSQRQAPPLPTGLSASDPGTATF*

Gene Symbol:NFIX
Accession:NM_001365902
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 330
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLR
KDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPG
LCVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHLSFQDCFVTSGVWNVTELVRVSQTPVATASG
PNFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPNDVDAGP
ASLKKSGKLNFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSL
KEFVQFVCSDGSGQATGQPNGSGQGKVPGSFLLPPPPPVARPVPLPMPDSKSTSTAPDGAALTPPSPSFATTGASSANRF
VSIGPRDGNFLNIPQQSQSWFL*

Gene Symbol:NFIX
Accession:XM_047438864
Location:INTRON

Gene Symbol:NFIX
Accession:NM_001365982
Location:INTRON

Gene Symbol:NFIX
Accession:XM_047438865
Location:INTRON

Gene Symbol:NFIX
Accession:XM_047438863
Location:INTRON

Gene Symbol:NFIX
Accession:XM_005259917
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000685480 CLINVAR
dbSNP (RS) rs1215112413 CLINVAR
MedGen C0265211 CLINVAR
NCBI Gene NFIX CLINVAR
OMIM 164005 CLINVAR
  602535 CLINVAR
  614753 CLINVAR
SNOMED CT 73284007 CLINVAR