RGD:156255814 Rat Genome Database

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Variant: RGD:156255814 -  Homo sapiens

RGD ID: 156255814
ClinVar ID: CV2025929
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEK8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 27,061,791
GRCh38 17 28,734,773
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.255C>T
NG_012263.1:g.10960C>T
NC_000017.11:g.28734773C>T
NC_000017.10:g.27061791C>T
More... 		07/27/2022 synonymous variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NEK8
Accession:NM_178170
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKYERIRVVGRGAFGIVHLCLRKADQKLVIIKQIPVEQMTKEERQAAQNECQVLKLLNHPNVIEYYENFLEDKALMIAM
EYAPGGTLAEFIQKRCNSLLEEETILHFFVQILLALHHVHTHLILHRDLKTQNILLDKHRMVVKIGDFGISKILSSKSKA
YTVVGTPCYISPELCEGKPYNQKSDIWALGCVLYELASLKRAFEAANLPALVLKIMSGTFAPISDRYSPELRQLVLSLLS
LEPAQRPPLSHIMAQPLCIRALLNLHTDVGSVRMRRAEKSVAPSNTGSRTTSVRCRGIPRGPVRPAIPPPLSSVYAWGGG
LGTPLRLPMLNTEVVQVAAGRTQKAGVTRSGRLILWEAPPLGAGGGSLLPGAVEQPQPQFISRFLEGQSGVTIKHVACGD
FFTACLTDRGIIMTFGSGSNGCLGHGSLTDISQPTIVEALLGYEMVQVACGASHVLALSTERELFAWGRGDSGRLGLGTR
ESHSCPQQVPMPPGQEAQRVVCGIDSSMILTVPGQALACGSNRFNKLGLDHLSLGEEPVPHQQVEEALSFTLLGSAPLDQ
EPLLSIDLGTAHSAAVTASGDCYTFGSNQHGQLGTNTRRGSRAPCKVQGLEGIKMAMVACGDAFTVAIGAESEVYSWGKG
ARGRLGRRDEDAGLPRPVQLDETHPYTVTSVSCCHGNTLLAVRSVTDEPVPP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002746143 CLINVAR
MedGen C3151188 CLINVAR
NCBI Gene NEK8 CLINVAR
OMIM 609799 CLINVAR
  613824 CLINVAR