RGD:127311878 Rat Genome Database

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Variant: RGD:127311878 -  Homo sapiens

RGD ID: 127311878
RS ID: rs7118824
ClinVar ID: CV1121155
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 128,781,978
GRCh38 11 128,912,083
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000890.5:c.810T>C
NM_001354169.2:c.810T>C
LRG_333:g.25666T>C
NG_023406.2:g.25666T>C
More... 		03/09/2020 synonymous variant likely benign Familial hyperaldosteronism type 3; Familial hyperaldosteronism type III; FH III
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNJ5
Accession:XM_011542810
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT
LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK
CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK
SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS
SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQ
NEEDEPKGLGGSREARGSV*

Gene Symbol:KCNJ5
Accession:NM_001354169
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT
LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK
CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK
SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS
SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQ
NEEDEPKGLGGSREARGSV*

Gene Symbol:KCNJ5
Accession:NM_000890
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT
LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK
CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK
SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS
SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQ
NEEDEPKGLGGSREARGSV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001464246 CLINVAR
  RCV002506537 CLINVAR
dbSNP (RS) rs7118824 CLINVAR
MedGen C0023976 CLINVAR
  C3150733 CLINVAR
NCBI Gene KCNJ5 CLINVAR
OMIM 600734 CLINVAR
  613485 CLINVAR
  613677 CLINVAR
SNOMED CT 9651007 CLINVAR