RGD:401761387 Rat Genome Database

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Variant: RGD:401761387 -  Homo sapiens

RGD ID: 401761387
ClinVar ID: CV2689128
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126862268  NAGPA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 5,078,887
GRCh38 16 5,028,886
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016256.4:c.914A>G
NG_028152.1:g.10056A>G
NG_086766.1:g.540T>C
NC_000016.10:g.5028886T>C
More... 		03/31/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NAGPA
Accession:NM_016256
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTGRWLLLRLALFGFLWEASGGLDSGASRDDDLLLPYPRARARLPRDCTRVRAGNREHESWPPPPATPGAGGLAVRT
FVSHFRDRAVAGHLTRAVEPLRTFSVLEPGGPGGCAARRRATVEETARAADCRVAQNGGFFRMNSGECLGNVVSDERRVS
SSGGLQNAQFGIRRDGTLVTGYLSEEEVLDTENPFVQLLSGVVWLIRNGSIYINESQATECDETQETGSFSKFVNVISAR
TAIGHDRKGQLVLFHADGQTEQRGINLWEMAEFLLKQDVVNAINLDGGGSATFVLNGTLASYPSAHCQDNMWRCPRQVST
VVCVHEPRCQPPDCHGHGTCVDGHCQCTGHFWRGPGCDELDCGPSNCSQHGLCTETGCRCDAGWTGSNCSEECPLGWHGP
GCQRPCKCEHHCPCDPKTGNCSVSRVKQCLQPPEATLRAGELSFFTRTAWLALTLALAFLLLISTAANLSLLLSRAERNR
RLHGDYAYHPLQEMNGEPLAAEKEQPGGAHNPFKD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004305890 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC126862268 CLINVAR
  NAGPA CLINVAR
OMIM 607985 CLINVAR