RGD:11604376 Rat Genome Database

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Variant: RGD:11604376 -  Homo sapiens

RGD ID: 11604376
RS ID: rs141868759
ClinVar ID: CV314608
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFEMP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 65,635,525
GRCh38 11 65,868,054
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.977G>A
NG_053116.1:g.12993C>T
NM_016938.4:c.977G>A
NG_012304.2:g.9881G>A
More... 		09/14/2021 missense variant benign|conflicting interpretations of pathogenicity|uncertain significance CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; none provided
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: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLC
LPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGP
ECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFS
CSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYI
QVSENHCLCPASNPLCREQPSSIVHRYMTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLV
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 RCV000658599 CLINVAR
  RCV001080329 CLINVAR
  RCV002379175 CLINVAR
dbSNP (RS) rs141868759 CLINVAR
MedGen C3280798 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene EFEMP2 CLINVAR
OMIM 604633 CLINVAR
  614437 CLINVAR