RGD:126731544 Rat Genome Database

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Pathways
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Variant: RGD:126731544 -  Homo sapiens

RGD ID: 126731544
RS ID: rs1357613836
ClinVar ID: CV1000743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFEMP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 65,639,774
GRCh38 11 65,872,303
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.52C>T
NG_012304.2:g.5632C>T
NC_000011.10:g.65872303G>A
NC_000011.9:g.65639774G>A
More... 		01/01/2021 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EFEMP2
Accession:NM_016938
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 18
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 Information

Database Acc Id Source(s)
ClinVar RCV001310606 CLINVAR
dbSNP (RS) rs1357613836 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EFEMP2 CLINVAR
OMIM 604633 CLINVAR