RGD:405124798 Rat Genome Database

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Variant: RGD:405124798 -  Homo sapiens

RGD ID: 405124798
ClinVar ID: CV2939282
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMP  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 29,246,545
GRCh38 13 28,672,408
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015932.6:c.334A>C
NG_027550.1:g.18405A>C
NC_000013.11:g.28672408A>C
NC_000013.10:g.29246545A>C
More... 		12/20/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:POMP
Accession:NM_015932
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNARGLGSELKDSIPVTELSASGPFESHDLLRKGFSCVKNELLPSHPLELSEKNFQLNQDKMNFSTLRNIQGLFAPLKLQ
MEFKAVQQVQRLPFLSSSNLSLDVLRGNDETLGFEDILNDPSQSEVMGEPHLMVEYKLGLL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003671847 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene POMP CLINVAR
OMIM 613386 CLINVAR