RGD:401867867 Rat Genome Database

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Variant: RGD:401867867 -  Homo sapiens

RGD ID: 401867867
ClinVar ID: CV2767100
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNMB4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 70,824,374
GRCh38 12 70,430,594
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_014505.5:c.574A>G
NP_055320.4:p.Ile192Val
NM_014505.6:c.574A>G
NC_000012.12:g.70430594A>G
More... 		08/08/2023 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:KCNMB4
Accession:NM_014505
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKLRVAYEYTEAEDKSIRLGLFLIISGVVSLFIFGFCWLSPALQDLQATEANCTVLSVQQIGEVFECTFTCGADCRGTS
QYPCVQVYVNNSESNSRALLHSDEHQLLTNPKCSYIPPCKRENQKNLESVMNWQQYWKDEIGSQPFTCYFNQHQRPDDVL
LHRTHDEIVLLHCFLWPLVTFVVGVLIVVLTVCAKSLAVKAEAMKKRKFS*

Gene Symbol:KCNMB4
Accession:XM_011538188
Location:INTRON

Gene Symbol:KCNMB4
Accession:XM_047428701
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV004347501 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCNMB4 CLINVAR
OMIM 605223 CLINVAR