RGD:15115067 Rat Genome Database

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Variant: RGD:15115067 -  Homo sapiens

RGD ID: 15115067
RS ID: rs6629276
ClinVar ID: CV717655
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EGFL6  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 13,618,137
GRCh38 X 13,600,018
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.13618137A>G
NM_001167890.1:c.324A>G
NP_001161362.1:p.Arg108=
NC_000023.11:g.13600018A>G
More... 		04/11/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EGFL6
Accession:NM_001167890
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPWSLALPLLLSWVAGGFGNAASARHHGLLASARQPGVCHYGTKLACCYGWRRNSKGVCEATCEPGCKFGECVGPNKC
RCFPGYTGKTCSQDVNECGMKPRPCQHRCVNTHGSYKCFCLSGHMLMPDATCVNSRTCAMINCQYSCEDTEEGPQCLCPS
SGLRLAPNGRDCLDIDECASGKVICPYNRRCVNTFGSYYCKCHIGFELQYISGRYDCIDINECTMDSHTCSHHANCFNTQ
GSFKCKCKQGYKGNGLRCSAIPENSVKEVLRAPGTIKDRIKKLLAHKNSMKKKAKIKNVTPEPTRTPTPKVNLQPFNYEE
IVSRGGNSHGGKKGNEEKMKEGLEDEKREEKALKNDIEERSLRGDVFFPKVNEAGEFGLILVQRKALTSKLEHKADLNIS
VDCSFNHGICDWKQDREDDFDWNPADRDNAIGFYMAVPALAGHKKDIGRLKLLLPDLQPQSNFCLLFDYRLAGDKVGKLR
VFVKNSNNALAWEKTTSEDEKWKTGKIQLYQGTDATKSIIFEAERGKGKTGEIAVDGVLLVSGLCPDSLLSVDD*

Gene Symbol:EGFL6
Accession:NM_015507
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPWSLALPLLLSWVAGGFGNAASARHHGLLASARQPGVCHYGTKLACCYGWRRNSKGVCEATCEPGCKFGECVGPNKC
RCFPGYTGKTCSQDVNECGMKPRPCQHRCVNTHGSYKCFCLSGHMLMPDATCVNSRTCAMINCQYSCEDTEEGPQCLCPS
SGLRLAPNGRDCLDIDECASGKVICPYNRRCVNTFGSYYCKCHIGFELQYISGRYDCIDINECTMDSHTCSHHANCFNTQ
GSFKCKCKQGYKGNGLRCSAIPENSVKEVLRAPGTIKDRIKKLLAHKNSMKKKAKIKNVTPEPTRTPTPKVNLQPFNYEE
IVSRGGNSHGGKKGNEEKMKEGLEDEKREEKALKNDIEERSLRGDVFFPKVNEAGEFGLILVQRKALTSKLEHKDLNISV
DCSFNHGICDWKQDREDDFDWNPADRDNAIGFYMAVPALAGHKKDIGRLKLLLPDLQPQSNFCLLFDYRLAGDKVGKLRV
FVKNSNNALAWEKTTSEDEKWKTGKIQLYQGTDATKSIIFEAERGKGKTGEIAVDGVLLVSGLCPDSLLSVDD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000961785 CLINVAR
dbSNP (RS) rs6629276 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EGFL6 CLINVAR
OMIM 300239 CLINVAR