RGD:8562485 Rat Genome Database

Variant: RGD:8562485 - Homo sapiens

RGD ID:

8562485

RS ID:

rs137853325

ClinVar ID:

CV26493

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IKBKG LOC127898546

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	153,792,665
GRCh38	X	154,564,450

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	Age of Onset	Prevalence	Trait Synonyms
NM_003639.4:c.1249T>C LRG_70:g.27207T>C NG_009896.1:g.27207T>C NC_000023.11:g.154564450T>C More...	09/16/2013	missense variant	pathogenic	neonatal/infancy	1-9 / 100 000	ECTODERMAL DYSPLASIA AND IMMUNE DEFICIENCY 1; ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY; Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia

Disease Annotations Click to see Annotation Detail View

ectodermal dysplasia and immunodeficiency 1 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	IKBKG
Accession:	NM_001145255
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	318

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCEELL HFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQQMAEDKASVKAQVTSLLGELQESQSRL EAATKECQALEGRRKLAQLQVAYHQLFQEYDNHIKSSVVGSERKRADIYKADFQAERQAREKLAEKKELLQEQLEQLQRE YSKLKASCQESARIEDMRKRHVEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKCQYQAPDMDTLQIHVMERIE *

Gene Symbol:	IKBKG
Accession:	NM_001377312
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	417

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCEELL HFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQQMAEDKASVKAQVTSLLGELQESQSRL EAATKECQALEGRARAASEQARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQAASEEKRKLAQLQVAYHQLFQE YDNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHKIVMETVPVLKAQADIYKADFQAERQARE KLAEKKELLQEQLEQLQREYSKLKASCQESARIEDMRKRHVEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKC QYQAPDMDTLQIHVMERIE*

Gene Symbol:	IKBKG
Accession:	NM_001321396
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	417

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCEELL HFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQQMAEDKASVKAQVTSLLGELQESQSRL EAATKECQALEGRARAASEQARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQAASEEKRKLAQLQVAYHQLFQE YDNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHKIVMETVPVLKAQADIYKADFQAERQARE KLAEKKELLQEQLEQLQREYSKLKASCQESARIEDMRKRHVEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKC QYQAPDMDTLQIHVMERIE*

Gene Symbol:	IKBKG
Accession:	NM_001321397
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	416

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCEELL HFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQMAEDKASVKAQVTSLLGELQESQSRLE AATKECQALEGRARAASEQARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQAASEEKRKLAQLQVAYHQLFQEY DNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHKIVMETVPVLKAQADIYKADFQAERQAREK LAEKKELLQEQLEQLQREYSKLKASCQESARIEDMRKRHVEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKCQ YQAPDMDTLQIHVMERIE*

Gene Symbol:	IKBKG
Accession:	NM_003639
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	417

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCEELL HFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQQMAEDKASVKAQVTSLLGELQESQSRL EAATKECQALEGRARAASEQARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQAASEEKRKLAQLQVAYHQLFQE YDNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHKIVMETVPVLKAQADIYKADFQAERQARE KLAEKKELLQEQLEQLQREYSKLKASCQESARIEDMRKRHVEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKC QYQAPDMDTLQIHVMERIE*

Gene Symbol:	IKBKG
Accession:	NM_001099857
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	417

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCEELL HFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQQMAEDKASVKAQVTSLLGELQESQSRL EAATKECQALEGRARAASEQARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQAASEEKRKLAQLQVAYHQLFQE YDNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHKIVMETVPVLKAQADIYKADFQAERQARE KLAEKKELLQEQLEQLQREYSKLKASCQESARIEDMRKRHVEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKC QYQAPDMDTLQIHVMERIE*

Gene Symbol:	IKBKG
Accession:	NM_001377315
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	294

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCEELL HFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQGMQLEDLKQQLQQAEEALVAKQEVIDK LKEEAEQHKIVMETVPVLKAQADIYKADFQAERQAREKLAEKKELLQEQLEQLQREYSKLKASCQESARIEDMRKRHVEV SQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKCQYQAPDMDTLQIHVMERIE*

Gene Symbol:	IKBKG
Accession:	NM_001377314
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	365

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCEELL HFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQMAEDKASVKAQVTSLLGELQESQSRLE AATKECQALEGRRKLAQLQVAYHQLFQEYDNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHK IVMETVPVLKAQADIYKADFQAERQAREKLAEKKELLQEQLEQLQREYSKLKASCQESARIEDMRKRHVEVSQAPLPPAP AYLSSPLALPSQRRSPPEEPPDFCCPKCQYQAPDMDTLQIHVMERIE*

Gene Symbol:	IKBKG
Accession:	NM_001099856
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	485

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALVIQVGKLRPREVRTPQTINPSLFPSLPVKLSSIIEVPSGGERCCSRRTLVYKARAFWKGAPLPCWMNRHLWKSQLCE MVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCEELLHFQASQREEKEF LMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQQMAEDKASVKAQVTSLLGELQESQSRLEAATKECQALEG RARAASEQARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQAASEEKRKLAQLQVAYHQLFQEYDNHIKSSVVGS ERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHKIVMETVPVLKAQADIYKADFQAERQAREKLAEKKELLQEQ LEQLQREYSKLKASCQESARIEDMRKRHVEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKCQYQAPDMDTLQI HVMERIE*

Gene Symbol:	IKBKG
Accession:	NM_001377313
Location:	EXON
Amino Acid Prediction:	C to R (nonsynonymous)
Amino Acid Position:	416

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCEELL HFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQMAEDKASVKAQVTSLLGELQESQSRLE AATKECQALEGRARAASEQARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQAASEEKRKLAQLQVAYHQLFQEY DNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHKIVMETVPVLKAQADIYKADFQAERQAREK LAEKKELLQEQLEQLQREYSKLKASCQESARIEDMRKRHVEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKCQ YQAPDMDTLQIHVMERIE*

Gene Symbol:	IKBKG
Accession:	NR_165197
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000012207	CLINVAR
dbSNP (RS)	rs137853325	CLINVAR
MedGen	C1846008	CLINVAR
NCBI Gene	IKBKG	CLINVAR
OMIM	300248	CLINVAR
	300291	CLINVAR
OMIM Allele	300248.0009	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:8562485 - Homo sapiens

Imported Disease Annotations - ClinVar