RGD:405704383 Rat Genome Database

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Variant: RGD:405704383 -  Homo sapiens

RGD ID: 405704383
ClinVar ID: CV3301272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1B3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 141,644,428
GRCh38 3 141,925,586
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001679.4:c.725C>G
NC_000003.12:g.141925586C>G
NC_000003.11:g.141644428C>G
NM_001679.2:c.725C>G
More... 		09/26/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ATP1B3
Accession:NM_001679
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTKNEKKSLNQSLAEWKLFIYNPTTGEFLGRTAKSWGLILLFYLVFYGFLAALFSFTMWVMLQTLNDEVPKYRDQIPSPG
LMVFPKPVTALEYTFSRSDPTSYAGYIEDLKKFLKPYTLEEQKNLTVCPDGALFEQKGPVYVACQFPISLLQACSGMNDP
DFGYSQGNPCILVKMNRIIGLKPEGVPRIDCVSKNEDIPNVAVYPHNGMIDLKYFPYYGKKLHVGYLQPLVAVQVSFAPN
NSGKEVTVECKIDGSANLKSQDDRDKFLGRVMFKITARA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004425870 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ATP1B3 CLINVAR
OMIM 601867 CLINVAR