RGD:155923932 Rat Genome Database

Variant: RGD:155923932 - Homo sapiens

RGD ID:

155923932

ClinVar ID:

CV2248650

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NFKBID

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	19	36,381,308
GRCh38	19	35,890,406

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_032721.3:c.1147C>T NM_001365705.1:c.691C>T NM_001321831.2:c.736C>T NC_000019.10:g.35890406G>A More...	11/15/2021	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	221

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPTLTAPTLALLLLPKISCLLTSTHPRTQGSRAHFPRAWRLLHLFAARGLRWAAYAAAEVLQVYRRLDIREHKGKTPLL VAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTAILALNVAMRP SDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPWGDLRTFVNMKAHGNTALHM AAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	231

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDI REHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTA ILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPWGDLRTFVNM KAHGNTALHMAAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	231

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDI REHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTA ILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPWGDLRTFVNM KAHGNTALHMAAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDIREHKGKTPLLVAAAANQPLIVEDLLNLGAEPNA ADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTAILALNVAMRPSDLCPRVLSTQARDRLDCVHMLL QMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPWGDLRTFVNMKAHGNTALHMAAALPPGPAQEAIVRHLLAAGAD PTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:	NFKBID
Accession:	NM_001321831
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	246

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPPDTQFYVGSSLPQAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAA YAAAEVLQVYRRLDIREHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVD LEARDFEGLTPLHTAILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQL LLELPWGDLRTFVNMKAHGNTALHMAAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSR VAPPGLSS*

Gene Symbol:	NFKBID
Accession:	NM_001365705
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	231

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDI REHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTA ILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPWGDLRTFVNM KAHGNTALHMAAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	392

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVCLRGILDSQAFWHETLRRWECLLAEMKVSRGERSHCPTQTVKKLLEEQRRRQQQQPDAGGVQGQFLPPPEQPLTPSV NEAVTAHSETVGSGPSSLGFPDWDPNTHAAYTDSPYSCPASAAENFLPPDFYPPSDPGQPCPFPQGMEDPPDTQFYVGSS LPQAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLD IREHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHT AILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPWGDLRTFVN MKAHGNTALHMAAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:	NFKBID
Accession:	NM_139239
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	231

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDI REHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTA ILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPWGDLRTFVNM KAHGNTALHMAAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	398

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVCLRGILDSQAFWHETLRRWECLLAEMKVSRGERSHCPTQTVKKLLEEQRRRQQQQPDAGGVQGQFLPPPEQPLTPSV NEAVTGHPPFPAHSETVGSGPSSLGFPDWDPNTHAAYTDSPYSCPASAAENFLPPDFYPPSDPGQPCPFPQGMEDPPDTQ FYVGSSLPQAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQ VYRRLDIREHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEG LTPLHTAILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPWGD LRTFVNMKAHGNTALHMAAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS *

Gene Symbol:	NFKBID
Accession:	NM_032721
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	383

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVCLRGILDSQAFWHETLRRWECLLAEMKVSRGERSHCPTQTVKKLLEEQRRRQQQQPDAGGVQGQFLPPPEQPLTPSV NEAVTGHPPFPAHSETVGSGPSSLGFPDWDPNTHAAYTDSPYSCPASAAENFLPPDFYPPSDPGQPCPFPQGMEAGPWRV SAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDIREHKGKTP LLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTAILALNVAM RPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPWGDLRTFVNMKAHGNTAL HMAAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	246

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPPDTQFYVGSSLPQAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAA YAAAEVLQVYRRLDIREHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVD LEARDFEGLTPLHTAILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQL LLELPWGDLRTFVNMKAHGNTALHMAAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSR VAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	246

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPPDTQFYVGSSLPQAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAA YAAAEVLQVYRRLDIREHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVD LEARDFEGLTPLHTAILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQL LLELPWGDLRTFVNMKAHGNTALHMAAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSR VAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	246

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPPDTQFYVGSSLPQAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAA YAAAEVLQVYRRLDIREHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVD LEARDFEGLTPLHTAILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQL LLELPWGDLRTFVNMKAHGNTALHMAAALPPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSR VAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	377

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVCLRGILDSQAFWHETLRRWECLLAEMKVSRGERSHCPTQTVKKLLEEQRRRQQQQPDAGGVQGQFLPPPEQPLTPSV NEAVTAHSETVGSGPSSLGFPDWDPNTHAAYTDSPYSCPASAAENFLPPDFYPPSDPGQPCPFPQGMEAGPWRVSAPPSG PPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDIREHKGKTPLLVAAA ANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTAILALNVAMRPSDLC PRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPWGDLRTFVNMKAHGNTALHMAAAL PPGPAQEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:	NFKBID
Accession:	NM_001365706
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004121831	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	NFKBID	CLINVAR
OMIM	618887	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:155923932 - Homo sapiens