RGD:11621709 Rat Genome Database

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Variant: RGD:11621709 -  Homo sapiens

RGD ID: 11621709
RS ID: rs532275192
ClinVar ID: CV341864
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTG  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 1,412,704
GRCh38 16 1,362,703
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.15805T>C
NC_000016.10:g.1362703T>C
NC_000016.9:g.1412704T>C
NP_115909.1:p.Pro234=
More... 		11/07/2021 synonymous variant benign|conflicting interpretations of pathogenicity|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: P to P (synonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSGPVHLFRLSGKCFSLVESTYK
YEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYA
LTFETPLVCHPHALLVYPTLPEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQLEGGPDSLGFE
TLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPGLRGSL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000351383 CLINVAR
  RCV000916738 CLINVAR
dbSNP (RS) rs532275192 CLINVAR
MedGen C1854896 CLINVAR
  C3661900 CLINVAR
NCBI Gene GNPTG CLINVAR
OMIM 252605 CLINVAR
  607838 CLINVAR