RGD:11616663 Rat Genome Database

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Variant: RGD:11616663 -  Homo sapiens

RGD ID: 11616663
RS ID: rs759248626
ClinVar ID: CV340478
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 1,412,474
GRCh38 16 1,362,473
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016985.1:g.15575C>T
NC_000016.10:g.1362473C>T
NC_000016.9:g.1412474C>T
NP_115909.1:p.Ala183Val
More... 		11/07/2021 missense variant uncertain significance ML III GAMMA; ML IIIC; MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C; MUCOLIPIDOSIS III, IRANIAN VARIANT FORM; MUCOLIPIDOSIS III, VARIANT FORM; Mucolipidosis type III gamma; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNPTG
Accession:NM_032520
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSGPVHLFRLSGKCFSLVESTYK
YEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYA
LTFETPLVCHPHALLVYPTLPEVLQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQLEGGPDSLGFE
TLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPGLRGSL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000296533 CLINVAR
  RCV001305385 CLINVAR
dbSNP (RS) rs759248626 CLINVAR
MedGen C1854896 CLINVAR
  CN517202 CLINVAR
NCBI Gene GNPTG CLINVAR
OMIM 252605 CLINVAR
  607838 CLINVAR