RGD:156254172 Rat Genome Database

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Variant: RGD:156254172 -  Homo sapiens

RGD ID: 156254172
ClinVar ID: CV2325608
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPPB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 11,918,391
GRCh38 1 11,858,334
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002521.3:c.268C>T
NC_000001.11:g.11858334G>A
NC_000001.10:g.11918391G>A
NM_002521.2:c.268C>T
More... 		12/19/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NPPB
Accession:NM_002521
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPQTAPSRALLLLLFLHLAFLGGRSHPLGSPGSASDLETSGLQEQRNHLQGKLSELQVEQTSLEPLQESPRPTGVWKSR
EVATEGIRGYRKMVLYTLRAPRSPKMVQGSGCFGRKMDRISSSSGLGCKVLRRH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004180026 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NPPB CLINVAR
OMIM 600295 CLINVAR