RGD:13832351 Rat Genome Database

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Variant: RGD:13832351 -  Homo sapiens

RGD ID: 13832351
RS ID: rs1565274500
ClinVar ID: CV582845
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFEMP2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 65,638,753
GRCh38 11 65,871,282
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016938.5:c.242T>C
NP_058634.4:p.Leu81Pro
NC_000011.9:g.65638753A>G
NG_012304.2:g.6653T>C
More... 		09/16/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:EFEMP2
Accession:NM_016938
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLC
PPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGP
ECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFS
CSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYI
QVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLV
LARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF*

Gene Symbol:EFEMP2
Accession:NR_037718
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000723038 CLINVAR
dbSNP (RS) rs1565274500 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene EFEMP2 CLINVAR
OMIM 604633 CLINVAR