RGD:13511115 Rat Genome Database

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Variant: RGD:13511115 -  Homo sapiens

RGD ID: 13511115
RS ID: rs779098734
ClinVar ID: CV484024
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127459902  NBN  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 90,996,783
GRCh38 8 89,984,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_158t1:c.7A>T
LRG_158:g.5117A>T
NG_008860.1:g.5117A>T
NC_000008.11:g.89984555T>A
More... 		11/07/2021 5 prime utr variant|nonsense pathogenic|likely pathogenic Ataxia telangiectasia variant V1; Berlin Breakage syndrome; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Immunodeficiency, microcephaly with normal intelligence; IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; 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


Variant Details
Variant Transcripts
Gene Symbol:NBN
Accession:NM_001024688
Location:5UTRS;EXON

Gene Symbol:NBN
Accession:NM_002485
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MW*LLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNE
EKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIK
TICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS
AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTK
NYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDA
PTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKS
ARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIED
EVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNN
DKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELE
EWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR*

Gene Symbol:NBN
Accession:XM_047421796
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MW*LLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNE
EKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIK
TICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS
AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTK
NYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADT*

Gene Symbol:NBN
Accession:XM_011517046
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MW*LLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNE
EKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIK
TICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS
AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTK
NYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDA
PTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKKGKG*

Gene Symbol:NBN
Accession:XM_024447163
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517045
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421795
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9590180   PMID:16415040   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000581960 CLINVAR
  RCV000707330 CLINVAR
dbSNP (RS) rs779098734 CLINVAR
MedGen C0027672 CLINVAR
  C0398791 CLINVAR
NCBI Gene NBN CLINVAR
OMIM 251260 CLINVAR
  602667 CLINVAR
SNOMED CT 234638009 CLINVAR
  699346009 CLINVAR