RGD:11559792 Rat Genome Database

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Variant: RGD:11559792 -  Homo sapiens

RGD ID: 11559792
RS ID: rs886039429
ClinVar ID: CV259674
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFIA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 61,554,154
GRCh38 1 61,088,482
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.61088482C>T
NC_000001.10:g.61554154C>T
NP_001138983.1:p.Arg113Cys
NP_005586.1:p.Arg121Cys
More... 		02/23/2023 missense variant pathogenic|likely pathogenic|uncertain significance Brain malformations and urinary tract defects; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NFIA
Accession:NM_005595
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLR
KDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLCQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPG
LCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGT
GPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEPGMPSP
TTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFV
QLVCPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPILVPGIK
VAASHHPPDRPPDPFSTL*

Gene Symbol:NFIA
Accession:NM_001145512
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQMCRPASSSVLYVPTRWPGGCGATWQSCPSPPPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQA
RKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMR
RIDCLCQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPS
QPSDADIKDQPENGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSST
KRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEPGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVIT
GPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLVCPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTP
MLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTYSTPSTSPANRFVSVGPRDPSFVNIPQQTQSWYLG*

Gene Symbol:NFIA
Accession:NM_001134673
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLR
KDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLCQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPG
LCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGT
GPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEPGMPSP
TTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFV
QLVCPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTYSTPST
SPANRFVSVGPRDPSFVNIPQQTQSWYLG*

Gene Symbol:NFIA
Accession:NM_001145511
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYR
EDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLCQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHI
GVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGTGPNFSLSD
LESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEPGMPSPTTLKKSEK
SGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLVCPDAG
QQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTYSTPSTSPANRFVS
VGPRDPSFVNIPQQTQSWYLG*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000254980 CLINVAR
  RCV002518754 CLINVAR
  RCV003152700 CLINVAR
dbSNP (RS) rs886039429 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  CN322312 CLINVAR
NCBI Gene NFIA CLINVAR
OMIM 600727 CLINVAR
  613735 CLINVAR