RGD:401864577 Rat Genome Database

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Variant: RGD:401864577 -  Homo sapiens

RGD ID: 401864577
ClinVar ID: CV2760961
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPP1R14C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 150,464,632
GRCh38 6 150,143,496
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.150143496G>A
NC_000006.11:g.150464632G>A
NM_030949.2:c.304G>A
NP_112211.1:p.Glu102Lys
More... 		06/30/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PPP1R14C
Accession:NM_030949
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVATGSSETAGGASGGGARVFFQSPRGGAGGSPGSSSGSGSSREDSAPVATAAAAGQVQQQQQRRHQQGKVTVKYDRKE
LRKRLVLEEWIVEQLGQLYGCKEEEMPEVEIDIDDLLDADSDEERASKLQEALVDCYKPTEEFIKELLSRIRGMRKLSPP
QKKSV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004336593 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PPP1R14C CLINVAR
OMIM 613242 CLINVAR