RGD:8606777 Rat Genome Database

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Variant: RGD:8606777 -  Homo sapiens

RGD ID: 8606777
RS ID: rs3827478
ClinVar ID: CV53124
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 119,562,432
GRCh38 X 120,428,577
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007995.1:g.45773A>G
NC_000023.11:g.120428577T>C
NC_000023.10:g.119562432T>C
c.1143A>G
More...
11/09/2021 3 prime utr variant|synonymous variant benign|likely benign childhood <1 / 1 000 000 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); HYPERTROPHIC MYOCARDIOPATHY; LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY; Lysosomal glycogen storage disease without acid maltase deficiency (formerly); none provided; Pseudoglycogenosis 2; PSEUDOGLYCOGENOSIS II; Vacuolar cardiomyopathy and myopathy X-linked
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LAMP2
Accession:NM_002294
Location:3UTRS;EXON

Gene Symbol:LAMP2
Accession:NM_001122606
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAEECSADSDLNFLIPVAVGVALGFLIIVVFISYMIG
RRKSRTGYQSV*

Gene Symbol:LAMP2
Accession:NM_013995
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000036928 CLINVAR
  RCV000356732 CLINVAR
  RCV000391773 CLINVAR
  RCV001618227 CLINVAR
dbSNP (RS) rs3827478 CLINVAR
MedGen C0007194 CLINVAR
  C0878677 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 300257 CLINVAR
  309060 CLINVAR
SNOMED CT 419097006 CLINVAR