RGD:155944409 Rat Genome Database

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Variant: RGD:155944409 -  Homo sapiens

RGD ID: 155944409
ClinVar ID: CV2295143
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ4  LOC101927183  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 38,822,906
GRCh38 22 38,426,901
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004981.2:c.1232C>T
NM_152868.3:c.1232C>T
NG_050625.2:g.33298C>T
NC_000022.10:g.38822906G>A
More... 		09/07/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KCNJ4
Accession:NM_152868
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 411
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHGHSRNGQAHVPRRKRRNRFVKKNGQCNVYFANLSNKSQRYMADIFTTCVDTRWRYMLMIFSAAFLVSWLFFGLLFWCI
AFFHGDLEASPGVPAAGGPAAGGGGAAPVAPKPCIMHVNGFLGAFLFSVETQTTIGYGFRCVTEECPLAVIAVVVQSIVG
CVIDSFMIGTIMAKMARPKKRAQTLLFSHHAVISVRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPYMTQEGEYLPLDQR
DLNVGYDIGLDRIFLVSPIIIVHEIDEDSPLYGMGKEELESEDFEIVVILEGMVEATAMTTQARSSYLASEILWGHRFEP
VVFEEKSHYKVDYSRFHKTYEVAGTPCCSARELQESKITVLPAPPPPPSAFCYENELALMSQEEEEMEEEAAAAAAVAAG
LGLEAGSKEEVGIIRMLEFGSHLDLERMQASLPLDNISYRRESAI*

Gene Symbol:KCNJ4
Accession:NM_004981
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 411
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHGHSRNGQAHVPRRKRRNRFVKKNGQCNVYFANLSNKSQRYMADIFTTCVDTRWRYMLMIFSAAFLVSWLFFGLLFWCI
AFFHGDLEASPGVPAAGGPAAGGGGAAPVAPKPCIMHVNGFLGAFLFSVETQTTIGYGFRCVTEECPLAVIAVVVQSIVG
CVIDSFMIGTIMAKMARPKKRAQTLLFSHHAVISVRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPYMTQEGEYLPLDQR
DLNVGYDIGLDRIFLVSPIIIVHEIDEDSPLYGMGKEELESEDFEIVVILEGMVEATAMTTQARSSYLASEILWGHRFEP
VVFEEKSHYKVDYSRFHKTYEVAGTPCCSARELQESKITVLPAPPPPPSAFCYENELALMSQEEEEMEEEAAAAAAVAAG
LGLEAGSKEEVGIIRMLEFGSHLDLERMQASLPLDNISYRRESAI*

Gene Symbol:LOC101927183
Accession:XR_938252
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004158245 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCNJ4 CLINVAR
OMIM 600504 CLINVAR