RGD:13468609 Rat Genome Database

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Variant: RGD:13468609 -  Homo sapiens

RGD ID: 13468609
RS ID: rs1556078130
ClinVar ID: CV470451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 119,565,198
GRCh38 X 120,431,343
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002294.2:c.1213G>A
NM_001122606.1:c.1094-2717G>A
NG_007995.1:g.43007G>A
NC_000023.11:g.120431343C>T
More... 		09/19/2018 intron variant uncertain significance 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_002294
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAQDCSADDDNFLVPIAVGAALAGVLILVLLAYFIGL
KHHHTGYEQF*

Gene Symbol:LAMP2
Accession:NM_001122606
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_013995
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000559105 CLINVAR
dbSNP (RS) rs1556078130 CLINVAR
MedGen C0878677 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 300257 CLINVAR
  309060 CLINVAR
SNOMED CT 419097006 CLINVAR