RGD:10041308 Rat Genome Database

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Variant: RGD:10041308 -  Homo sapiens

RGD ID: 10041308
RS ID: rs786204181
ClinVar ID: CV186092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NBN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 90,955,500
GRCh38 8 89,943,272
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_158t1:c.2165G>A
LRG_158:g.46400G>A
NG_008860.1:g.46400G>A
NC_000008.11:g.89943272C>T
More... 		01/08/2020 nonsense pathogenic neonatal/infancy 1-9 / 100 000 Ataxia telangiectasia variant V1; Berlin Breakage syndrome; Immunodeficiency, microcephaly with normal intelligence; IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies; Nijmegen breakage syndrome; Nonsyndromal microcephaly autosomal recessive with normal intelligence; Seemanova syndrome 2; SEEMANOVA SYNDROME II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NBN
Accession:NM_002485
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 722
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNE
EKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIK
TICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS
AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTK
NYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDA
PTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKS
ARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIED
EVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNN
DKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELE
E*LRQEMEVQNQHAKEESLADDLFRYNPYLKRRR*

Gene Symbol:NBN
Accession:XM_011517045
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 640
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTI
CALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAV
VFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNY
CDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPT
VKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSAR
IETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEV
LEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDK
LQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEE*
LRQEMEVQNQHAKEESLADDLFRYNPYLKRRR*

Gene Symbol:NBN
Accession:XM_024447163
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 640
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTI
CALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAV
VFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNY
CDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPT
VKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSAR
IETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEV
LEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDK
LQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEE*
LRQEMEVQNQHAKEESLADDLFRYNPYLKRRR*

Gene Symbol:NBN
Accession:XM_047421795
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 429
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQAD
TWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTN
SIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVK
NSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSK
ISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTY
PGAGKLPHIIGGSDLIAHHARKNTELEE*LRQEMEVQNQHAKEESLADDLFRYNPYLKRRR*

Gene Symbol:NBN
Accession:NM_001024688
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 640
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTI
CALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAV
VFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNY
CDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPT
VKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSAR
IETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEV
LEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDK
LQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEE*
LRQEMEVQNQHAKEESLADDLFRYNPYLKRRR*

Gene Symbol:NBN
Accession:XM_011517046
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421796
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000168229 CLINVAR
dbSNP (RS) rs786204181 CLINVAR
MedGen C0398791 CLINVAR
NCBI Gene NBN CLINVAR
OMIM 251260 CLINVAR
  602667 CLINVAR
SNOMED CT 234638009 CLINVAR