RGD:13210814 Rat Genome Database

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Variant: RGD:13210814 -  Homo sapiens

RGD ID: 13210814
RS ID: rs770087869
ClinVar ID: CV424899
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ8  LOC105369689  LOC124629328  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 21,926,198
GRCh38 12 21,773,264
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
NM_004982.4:c.353C>T
NG_041794.1:g.6558C>T
NC_000012.12:g.21773264G>A
NC_000012.11:g.21926198G>A
More... 		12/29/2016 missense variant uncertain significance adult 1-5 / 10 000 Right bundle branch block, ST segment elevation, and sudden death syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ8
Accession:NM_004982
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLARKSIIPEEYVLARIAAENLRKPRIRDRLPKARFIAKSGACNLAHKNIREQGRFLQDIFTTLVDLKWRHTLVIFTMSF
LCSWLLFAIMWWLVAFAHGDIYAYMEKSGMEKSGLESIVCVTNVRSFTSAFLFSIEVQVTIGFGGRMMTEECPLAITVLI
LQNIVGLIINAVMLGCIFMKTAQAHRRAETLIFSRHAVIAVRNGKLCFMFRVGDLRKSMIISASVRIQVVKKTTTPEGEV
VPIHQLDIPVDNPIESNNIFLVAPLIICHVIDKRSPLYDISATDLANQDLEVIVILEGVVETTGITTQARTSYIAEEIQW
GHRFVSIVTEEEGVYSVDYSKFGNTVKVAAPRCSARELDEKPSILIQTLQKSELSHQNSLRKRNSMRRNNSMRRNNSIRR
NNSSLMVPKVQFMTPEGNQNTSES*

Gene Symbol:LOC105369689
Accession:XR_007063241
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000496355 CLINVAR
  RCV003278845 CLINVAR
dbSNP (RS) rs770087869 CLINVAR
MedGen C4551804 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNJ8 CLINVAR
OMIM 600935 CLINVAR
  601144 CLINVAR