RGD:13811064 Rat Genome Database

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Variant: RGD:13811064 -  Homo sapiens

RGD ID: 13811064
RS ID: rs778236794
ClinVar ID: CV556929
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNX27  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 151,638,415
GRCh38 1 151,665,939
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.151665939G>A
NC_000001.10:g.151638415G>A
NP_112180.4:p.Ala305Thr
NM_001330723.2:c.913G>A
More... 		08/09/2018 missense variant uncertain significance DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A; Dravet syndrome; Epilepsy, Myoclonic, Infantile, Severe; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SNX27
Accession:XM_005245510
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNHVNVEGATHKQVVDLIRAGEKELILTVLSVPPHEADNLDPSDDSLGQSFYDYTEKQAVPISVPRYKHVEQNGEKFVVY
NVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEFLS
ESDENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAITAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKLYI
QNYTSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTCEG
YNEIIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVKIF
TPYFNYMHECFERVFCELKWRKENIFQMARSQQRDVAT*

Gene Symbol:SNX27
Accession:XM_047431289
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVSEGGQLRSINGELYAPLQH
VYNVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEF
LSESDENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAITAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKL
YIQNYTSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTC
EGYNEIIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVK
IFTPYFNYMHECFERVFCELKWRKEEY*

Gene Symbol:SNX27
Accession:NM_030918
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVSEGGQLRSINGELYAPLQH
VSAVLPGGAADRAGVRKGDRILEVNHVNVEGATHKQVVDLIRAGEKELILTVLSVPPHEADNLDPSDDSLGQSFYDYTEK
QAVPISVPRYKHVEQNGEKFVVYNVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLE
EYLEKVCSIRVIGESDIMQEFLSESDENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAITAKVGMDSTTVNYFAL
FEVISHSFVRKLAPNEFPHKLYIQNYTSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSY
QLQKLYEQRKMVMYLNMLRTCEGYNEIIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTD
EEGMAFCFEYARGEKKPRWVKIFTPYFNYMHECFERVFCELKWRKEEY*

Gene Symbol:SNX27
Accession:XM_017002417
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVYNVYMAGRQLCSKRYREFA
ILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEFLSESDENYNGVSDVELRVAL
PDGTTVTVRVKKNSTTDQVYQAITAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKLYIQNYTSAVPGTCLTIRKWL
FTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTCEGYNEIIFPHCACDSRRKGH
VITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVKIFTPYFNYMHECFERVFCEL
KWRKEEY*

Gene Symbol:SNX27
Accession:XM_005245511
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEFLSESD
ENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAITAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKLYIQNY
TSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTCEGYNE
IIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVKIFTPY
FNYMHECFERVFCELKWRKEEY*

Gene Symbol:SNX27
Accession:XM_047431290
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNHVNVEGATHKQVVDLIRAGEKELILTVLSVPPHEADNLDPSDDSLGQSFYDYTEKQAVPISVPRYKHVEQNGEKFVVY
NVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEFLS
ESDENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAITAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKLYI
QNYTSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTCEG
YNEIIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVKIF
TPYFNYMHECFERVFCELKWRKEEY*

Gene Symbol:SNX27
Accession:XM_011510024
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVSEGGQLRSINGELYAPLQH
VYNVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEF
LSESDENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAITAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKL
YIQNYTSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTC
EGYNEIIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVK
IFTPYFNYMHECFERVFCELKWRKENIFQMARSQQRDVAT*

Gene Symbol:SNX27
Accession:XM_011510025
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVYNVYMAGRQLCSKRYREFA
ILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEFLSESDENYNGVSDVELRVAL
PDGTTVTVRVKKNSTTDQVYQAITAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKLYIQNYTSAVPGTCLTIRKWL
FTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTCEGYNEIIFPHCACDSRRKGH
VITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVKIFTPYFNYMHECFERVFCEL
KWRKENIFQMARSQQRDVAT*

Gene Symbol:SNX27
Accession:XM_024450038
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEFLSESD
ENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAITAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKLYIQNY
TSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTCEGYNE
IIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVKIFTPY
FNYMHECFERVFCELKWRKENIFQMARSQQRDVAT*

Gene Symbol:SNX27
Accession:NM_001330723
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVSEGGQLRSINGELYAPLQH
VSAVLPGGAADRAGVRKGDRILEVNHVNVEGATHKQVVDLIRAGEKELILTVLSVPPHEADNLDPSDDSLGQSFYDYTEK
QAVPISVPRYKHVEQNGEKFVVYNVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLE
EYLEKVCSIRVIGESDIMQEFLSESDENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAITAKVGMDSTTVNYFAL
FEVISHSFVRKLAPNEFPHKLYIQNYTSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSY
QLQKLYEQRKMVMYLNMLRTCEGYNEIIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTD
EEGMAFCFEYARGEKKPRWVKIFTPYFNYMHECFERVFCELKWRKENIFQMARSQQRDVAT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000702902 CLINVAR
dbSNP (RS) rs778236794 CLINVAR
MedGen C0751122 CLINVAR
NCBI Gene SNX27 CLINVAR
OMIM 607208 CLINVAR
  611541 CLINVAR
SNOMED CT 230437002 CLINVAR