RGD:8598441 Rat Genome Database

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Variant: RGD:8598441 -  Homo sapiens

RGD ID: 8598441
RS ID: rs104894858
ClinVar ID: CV25021
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 119,576,454
GRCh38 X 120,442,599
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
NM_013995.2:c.928G>A
NM_001122606.1:c.928G>A
NG_007995.1:g.31751G>A
NC_000023.11:g.120442599C>T
More...
07/24/2019 missense|missense variant pathogenic childhood <1 / 1 000 000 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 cardiomyopathy; 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_001122606
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 310
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSIFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAEECSADSDLNFLIPVAVGVALGFLIIVVFISYMIG
RRKSRTGYQSV*

Gene Symbol:LAMP2
Accession:NM_002294
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 310
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSIFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAQDCSADDDNFLVPIAVGAALAGVLILVLLAYFIGL
KHHHAGYEQF*

Gene Symbol:LAMP2
Accession:NM_013995
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 310
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSIFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAQECSLDDDTILIPIIVGAGLSGLIIVIVIAYVIGR
RKSYAGYQTL*

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:15673802   PMID:16217705   PMID:17576681   PMID:18555174   PMID:19318653   PMID:19373884   PMID:24033266   PMID:25611685   PMID:27532257   PMID:28492532   PMID:29753918  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000010663 CLINVAR
  RCV000157981 CLINVAR
  RCV000844638 CLINVAR
  RCV002371769 CLINVAR
dbSNP (RS) rs104894858 CLINVAR
MedGen C0878677 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
  CN517202 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 300257 CLINVAR
  309060 CLINVAR
OMIM Allele 309060.0010 CLINVAR
SNOMED CT 419097006 CLINVAR