RGD:12899454 Rat Genome Database

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Variant: RGD:12899454 -  Homo sapiens

RGD ID: 12899454
RS ID: rs371149731
ClinVar ID: CV411115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 119,589,356
GRCh38 X 120,455,501
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_749t2:c.253G>A
LRG_749t3:c.253G>A
NM_001122606.1:c.253G>A
NM_013995.2:c.253G>A
More... 		10/27/2016 missense variant uncertain significance AllHighlyPenetrant; Antopol disease; Glycogen storage cardiomyopathy; Glycogen storage disease limited to the heart; Glycogen storage disease type 2b (formerly); Glycogen Storage Disease Type IIb; GSD IIb; GSD2B (formerly); LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY; Lysosomal glycogen storage disease without acid maltase deficiency (formerly); Pseudoglycogenosis 2; PSEUDOGLYCOGENOSIS II; Vacuolar cardiomyopathy and myopathy X-linked
Disease Annotations     Click to see Annotation Detail View
Danon disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:LAMP2
Accession:NM_001122606
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNSPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAEECSADSDLNFLIPVAVGVALGFLIIVVFISYMIG
RRKSRTGYQSV*

Gene Symbol:LAMP2
Accession:NM_013995
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNSPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAQECSLDDDTILIPIIVGAGLSGLIIVIVIAYVIGR
RKSYAGYQTL*

Gene Symbol:LAMP2
Accession:NM_002294
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNSPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAQDCSADDDNFLVPIAVGAALAGVLILVLLAYFIGL
KHHHAGYEQF*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:30019023  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000480236 CLINVAR
  RCV002431391 CLINVAR
  RCV002526517 CLINVAR
dbSNP (RS) rs371149731 CLINVAR
MedGen C0878677 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 300257 CLINVAR
  309060 CLINVAR
SNOMED CT 419097006 CLINVAR