RGD:28899228 Rat Genome Database

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Variant: RGD:28899228 -  Homo sapiens

RGD ID: 28899228
RS ID: rs145275797
ClinVar ID: CV877105
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEK8  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 27,068,531
GRCh38 17 28,741,513
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_178170.3:c.1992C>G
NG_012263.1:g.17700C>G
NC_000017.10:g.27068531C>G
NC_000017.11:g.28741513C>G
More... 		05/18/2021 missense variant uncertain significance Renal-hepatic-pancreatic dysplasia 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NEK8
Accession:NM_178170
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 664
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKYERIRVVGRGAFGIVHLCLRKADQKLVIIKQIPVEQMTKEERQAAQNECQVLKLLNHPNVIEYYENFLEDKALMIAM
EYAPGGTLAEFIQKRCNSLLEEETILHFFVQILLALHHVHTHLILHRDLKTQNILLDKHRMVVKIGDFGISKILSSKSKA
YTVVGTPCYISPELCEGKPYNQKSDIWALGCVLYELASLKRAFEAANLPALVLKIMSGTFAPISDRYSPELRQLVLSLLS
LEPAQRPPLSHIMAQPLCIRALLNLHTDVGSVRMRRAEKSVAPSNTGSRTTSVRCRGIPRGPVRPAIPPPLSSVYAWGGG
LGTPLRLPMLNTEVVQVAAGRTQKAGVTRSGRLILWEAPPLGAGGGSLLPGAVEQPQPQFISRFLEGQSGVTIKHVACGD
FFTACLTDRGIIMTFGSGSNGCLGHGSLTDISQPTIVEALLGYEMVQVACGASHVLALSTERELFAWGRGDSGRLGLGTR
ESHSCPQQVPMPPGQEAQRVVCGIDSSMILTVPGQALACGSNRFNKLGLDHLSLGEEPVPHQQVEEALSFTLLGSAPLDQ
EPLLSIDLGTAHSAAVTASGDCYTFGSNQHGQLGTNTRRGSRAPCKVQGLEGIKMAMVACGDAFTVAIGAESEVYSWGKG
ARGRLGRRDEDAGLPRPVQLDETQPYTVTSVSCCHGNTLLAVRSVTDEPVPP*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001123871 CLINVAR
  RCV002482237 CLINVAR
dbSNP (RS) rs145275797 CLINVAR
MedGen C3151188 CLINVAR
NCBI Gene NEK8 CLINVAR
OMIM 609799 CLINVAR
  613824 CLINVAR
  615415 CLINVAR