RGD:15182322 Rat Genome Database

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Variant: RGD:15182322 -  Homo sapiens

RGD ID: 15182322
RS ID: rs145853251
ClinVar ID: CV768611
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFEMP2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 65,637,629
GRCh38 11 65,870,158
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.570G>T
NG_012304.2:g.7777G>T
NC_000011.10:g.65870158C>A
NC_000011.9:g.65637629C>A
More... 		10/01/2018 non-coding transcript variant likely benign 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 P (synonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLC
LPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGP
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 RCV001484300 CLINVAR
dbSNP (RS) rs145853251 CLINVAR
MedGen C3280798 CLINVAR
NCBI Gene EFEMP2 CLINVAR
OMIM 604633 CLINVAR
  614437 CLINVAR