RGD:155674941 Rat Genome Database

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Variant: RGD:155674941 -  Homo sapiens

RGD ID: 155674941
ClinVar ID: CV1811530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ5  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 128,781,806
GRCh38 11 128,911,911
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_333t1:c.638A>G
NM_000890.5:c.638A>G
NC_000011.9:g.128781806A>G
NM_000890.3:c.638A>G
More...
09/15/2021 missense variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:KCNJ5
Accession:NM_000890
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT
LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK
CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDGKLCLMFRVGDLRNSHIVEASIRAKLIK
SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS
SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQ
NEEDEPKGLGGSREARGSV*

Gene Symbol:KCNJ5
Accession:XM_011542810
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT
LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK
CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDGKLCLMFRVGDLRNSHIVEASIRAKLIK
SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS
SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQ
NEEDEPKGLGGSREARGSV*

Gene Symbol:KCNJ5
Accession:NM_001354169
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT
LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK
CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDGKLCLMFRVGDLRNSHIVEASIRAKLIK
SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS
SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQ
NEEDEPKGLGGSREARGSV*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002369136 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene KCNJ5 CLINVAR
OMIM 600734 CLINVAR