RGD:26918397 Rat Genome Database

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Variant: RGD:26918397 -  Homo sapiens

RGD ID: 26918397
RS ID: rs141721562
ClinVar ID: CV838771
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFEMP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 65,638,709
GRCh38 11 65,871,238
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.286C>T
NG_012304.2:g.6697C>T
NC_000011.10:g.65871238G>A
NC_000011.9:g.65638709G>A
More... 		03/14/2019 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: P to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLC
LPRSAAVINDLHGEGSPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGP
ECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFS
CSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYI
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 RCV001057858 CLINVAR
  RCV002436627 CLINVAR
dbSNP (RS) rs141721562 CLINVAR
MedGen C3280798 CLINVAR
  CN230736 CLINVAR
NCBI Gene EFEMP2 CLINVAR
OMIM 604633 CLINVAR
  614437 CLINVAR