RGD:11093963 Rat Genome Database

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Variant: RGD:11093963 -  Homo sapiens

RGD ID: 11093963
RS ID: rs876657845
ClinVar ID: CV231243
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 119,581,827
GRCh38 X 120,447,972
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_749t2:c.610A>C
LRG_749t3:c.610A>C
NM_001122606.1:c.610A>C
NM_013995.2:c.610A>C
More... 		07/16/2015 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LAMP2
Accession:NM_001122606
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTPVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAEECSADSDLNFLIPVAVGVALGFLIIVVFISYMIG
RRKSRTGYQSV*

Gene Symbol:LAMP2
Accession:NM_013995
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTPVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAQECSLDDDTILIPIIVGAGLSGLIIVIVIAYVIGR
RKSYAGYQTL*

Gene Symbol:LAMP2
Accession:NM_002294
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICG
DDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTPVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSY
WDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAQDCSADDDNFLVPIAVGAALAGVLILVLLAYFIGL
KHHHAGYEQF*
Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000220438 CLINVAR
dbSNP (RS) rs876657845 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 309060 CLINVAR