RGD:26891912 Rat Genome Database

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Variant: RGD:26891912 -  Homo sapiens

RGD ID: 26891912
RS ID: rs760501413
ClinVar ID: CV838763
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFEMP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 65,635,799
GRCh38 11 65,868,328
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.941G>A
NG_053116.1:g.13267C>T
NM_016938.4:c.941G>A
NG_012304.2:g.9607G>A
More... 		12/30/2019 missense variant uncertain significance CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EFEMP2
Accession:NM_016938
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLC
LPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGP
ECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFS
CSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTCVNFHGGYRCVDTNHCVEPYI
QVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLV
LARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001068454 CLINVAR
dbSNP (RS) rs760501413 CLINVAR
MedGen C3280798 CLINVAR
NCBI Gene EFEMP2 CLINVAR
OMIM 604633 CLINVAR
  614437 CLINVAR