RGD:11345071 Rat Genome Database

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Variant: RGD:11345071 -  Homo sapiens

RGD ID: 11345071
RS ID: rs876661351
ClinVar ID: CV236820
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 119,565,210
GRCh38 X 120,431,355
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.1201A>G
LRG_749t3:c.1094-2729A>G
NM_001122606.1:c.1094-2729A>G
LRG_749:g.42995A>G
More... 		12/09/2013 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LAMP2
Accession:NM_002294
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 401
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAQDCSADDDNFLVPIAVGAALAGVLILVLLAYFIGL
EHHHAGYEQF*

Gene Symbol:LAMP2
Accession:NM_013995
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_001122606
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000223895 CLINVAR
dbSNP (RS) rs876661351 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 309060 CLINVAR