RGD:13474885 Rat Genome Database

Variant: RGD:13474885 - Homo sapiens

RGD ID:

13474885

RS ID:

rs876658446

ClinVar ID:

CV474849

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NBN

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	90,994,982
GRCh38	8	89,982,754

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
LRG_158t1:c.139G>A LRG_158:g.6918G>A NC_000008.10:g.90994982C>T LRG_158p1:p.Val47Met More...	12/08/2016	5 prime utr variant\|missense variant	uncertain significance	Ataxia telangiectasia variant V1; Berlin Breakage syndrome; Cancer breast; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Immunodeficiency, microcephaly with normal intelligence; IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; Malignant breast neoplasm; Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies; Neoplastic Syndromes, Hereditary; Nijmegen breakage syndrome; Nonsyndromal microcephaly autosomal recessive with normal intelligence; Seemanova syndrome 2; SEEMANOVA SYNDROME II; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

breast cancer (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Nijmegen breakage syndrome (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Breast carcinoma (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	NBN
Accession:	XM_011517045
Location:	5UTRS;EXON

Gene Symbol:	NBN
Accession:	NM_001024688
Location:	5UTRS;EXON

Gene Symbol:	NBN
Accession:	XM_024447163
Location:	5UTRS;EXON

Gene Symbol:	NBN
Accession:	XM_047421796
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	47

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAMLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNE EKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIK TICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTK NYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADT*

Gene Symbol:	NBN
Accession:	NM_002485
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	47

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAMLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNE EKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIK TICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTK NYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDA PTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKS ARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIED EVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNN DKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELE EWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR*

Gene Symbol:	NBN
Accession:	XM_011517046
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	47

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAMLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNE EKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIK TICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTK NYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDA PTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKKGKG*

Gene Symbol:	NBN
Accession:	XM_047421795
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000564780	CLINVAR
	RCV001354454	CLINVAR
	RCV003617839	CLINVAR
dbSNP (RS)	rs876658446	CLINVAR
MedGen	C0006142	CLINVAR
	C0027672	CLINVAR
	C0398791	CLINVAR
NCBI Gene	NBN	CLINVAR
OMIM	251260	CLINVAR
	602667	CLINVAR
SNOMED CT	234638009	CLINVAR
	254837009	CLINVAR
	699346009	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)

Variant: RGD:13474885 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13474885 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar