RGD:401758588 Rat Genome Database

Variant: RGD:401758588 - Homo sapiens

RGD ID:

401758588

ClinVar ID:

CV2694177

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NFKBID

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	19	36,380,901
GRCh38	19	35,889,999

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.1235A>C NM_001365705.1:c.779A>C NM_001321831.2:c.824A>C NC_000019.10:g.35889999T>G More...	03/21/2023	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	NFKBID
Accession:	NM_139239
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	260

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDI REHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTA ILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPRGDLRTFVNM KAHGNTALHMAAALPPGPAPEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	260

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDI REHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTA ILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPRGDLRTFVNM KAHGNTALHMAAALPPGPAPEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:	NFKBID
Accession:	NM_032721
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	412

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVCLRGILDSQAFWHETLRRWECLLAEMKVSRGERSHCPTQTVKKLLEEQRRRQQQQPDAGGVQGQFLPPPEQPLTPSV NEAVTGHPPFPAHSETVGSGPSSLGFPDWDPNTHAAYTDSPYSCPASAAENFLPPDFYPPSDPGQPCPFPQGMEAGPWRV SAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDIREHKGKTP LLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTAILALNVAM RPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPRGDLRTFVNMKAHGNTAL HMAAALPPGPAPEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	421

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVCLRGILDSQAFWHETLRRWECLLAEMKVSRGERSHCPTQTVKKLLEEQRRRQQQQPDAGGVQGQFLPPPEQPLTPSV NEAVTAHSETVGSGPSSLGFPDWDPNTHAAYTDSPYSCPASAAENFLPPDFYPPSDPGQPCPFPQGMEDPPDTQFYVGSS LPQAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLD IREHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHT AILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPRGDLRTFVN MKAHGNTALHMAAALPPGPAPEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	275

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

Gene Symbol:	NFKBID
Accession:	NM_001365705
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	260

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDI REHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTA ILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPRGDLRTFVNM KAHGNTALHMAAALPPGPAPEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	275

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

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	406

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVCLRGILDSQAFWHETLRRWECLLAEMKVSRGERSHCPTQTVKKLLEEQRRRQQQQPDAGGVQGQFLPPPEQPLTPSV NEAVTAHSETVGSGPSSLGFPDWDPNTHAAYTDSPYSCPASAAENFLPPDFYPPSDPGQPCPFPQGMEAGPWRVSAPPSG PPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDIREHKGKTPLLVAAA ANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTAILALNVAMRPSDLC PRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPRGDLRTFVNMKAHGNTALHMAAAL PPGPAPEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	250

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPTLTAPTLALLLLPKISCLLTSTHPRTQGSRAHFPRAWRLLHLFAARGLRWAAYAAAEVLQVYRRLDIREHKGKTPLL VAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTAILALNVAMRP SDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPRGDLRTFVNMKAHGNTALHM AAALPPGPAPEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	275

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

Gene Symbol:	NFKBID
Accession:	NM_001321831
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	275

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

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	227

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

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	427

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVCLRGILDSQAFWHETLRRWECLLAEMKVSRGERSHCPTQTVKKLLEEQRRRQQQQPDAGGVQGQFLPPPEQPLTPSV NEAVTGHPPFPAHSETVGSGPSSLGFPDWDPNTHAAYTDSPYSCPASAAENFLPPDFYPPSDPGQPCPFPQGMEDPPDTQ FYVGSSLPQAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQ VYRRLDIREHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEG LTPLHTAILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPRGD LRTFVNMKAHGNTALHMAAALPPGPAPEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS *

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	260

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAGPWRVSAPPSGPPQFPAVVPGPSLEVARAHMLALGPQQLLAQDEEGDTLLHLFAARGLRWAAYAAAEVLQVYRRLDI REHKGKTPLLVAAAANQPLIVEDLLNLGAEPNAADHQGRSVLHVAATYGLPGVLLAVLNSGVQVDLEARDFEGLTPLHTA ILALNVAMRPSDLCPRVLSTQARDRLDCVHMLLQMGANHTSQEIKSNKTVLHLAVQAANPTLVQLLLELPRGDLRTFVNM KAHGNTALHMAAALPPGPAPEAIVRHLLAAGADPTLRNLENEQPVHLLRPGPGPEGLRQLLKRSRVAPPGLSS*

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	RCV004302602	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)

Create Name:

Description:

Send us a Message

Variant: RGD:401758588 - Homo sapiens