RGD:401879578 Rat Genome Database

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Variant: RGD:401879578 -  Homo sapiens

RGD ID: 401879578
ClinVar ID: CV2769672
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMP  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 29,246,546
GRCh38 13 28,672,409
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.335T>C
NG_027550.1:g.18406T>C
NC_000013.11:g.28672409T>C
NC_000013.10:g.29246546T>C
More... 		07/05/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMP
Accession:NM_015932
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNARGLGSELKDSIPVTELSASGPFESHDLLRKGFSCVKNELLPSHPLELSEKNFQLNQDKMNFSTLRNIQGLFAPLKLQ
MEFKAVQQVQRLPFLSSSNLSLDVLRGNDETTGFEDILNDPSQSEVMGEPHLMVEYKLGLL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003364356 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene POMP CLINVAR
OMIM 613386 CLINVAR