RGD:11659831 Rat Genome Database

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Variant: RGD:11659831 -  Homo sapiens

RGD ID: 11659831
RS ID: rs886057133
ClinVar ID: CV346777
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL18A1  SLC19A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,930,140
GRCh38 21 45,510,226
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_030582.4:c.4189G>A
NM_130444.3:c.4894G>A
NG_011903.1:g.110035G>A
NC_000021.9:g.45510226G>A
More...
06/14/2016 missense variant uncertain significance infancy <1 / 1 000 000 Myopia retinal detachment encephalocele; RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL18A1
Accession:NM_030582
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 1400
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADTTTHVTPRNGSTEPATAPGSP
EPPSELLEDGQDTPTSAESPDAPEENIAGVGAEILNVAKGIRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSST
PQENGTTLWPSRGIPSSPGAHTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSERISEEVGLLQLLGDPPPQQVTQTD
DPDVGLAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKLSGVQDGHQDISLLYT
EPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQRMPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVI
AELKVRRDPQVSPMHCLDEEGDDSDGASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVE
EQTTVASLGAQTLPGSDSVSTWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSPCLPGPPGLPCPVSPLGPAGP
ALQTVPGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTGPQGFPGTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPS
FRHDKLTFIDMEGSGFGGDLEALRGPRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPP
GPPGREGPPGRTGQKGSLGEAGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPPGPPGPGLPAGFDDMEGSGGP
FWSTARSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADGVPGFPGLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQP
GLPGPPGPPGPVVYVSEQDGSVLSVPGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQ
KGAKGEPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLKGEKGEPGDASLGFGMRGMPGPPGPPGPPGPPGTPVYDSNV
FAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFDFLQLEAEMKGEKGDRGDAGQKGERGEPGGGGFFGSSLPGP
PGPPGPPGPRGYPGIPGPKGESIRGQPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGP
PGTMGASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDNEVAALQPPVVQLHDS
NPYPRREHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSYVHLRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMR
GIRGADFQCFQQARAVGLAGTFRAFLSSRLQDLYSIVRRTDRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFD
GKDVLRHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHHAYIVLCIENSFMTASK*

Gene Symbol:COL18A1
Accession:NM_130444
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 1635
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADTTTHVTPRNGSTEPATAPGSP
EPPSELLEDGQDTPTSAESPDAPEENIAGVGAEILNVAKGIRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSST
PQENGTTLWPSRGIPSSPGAHTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSGRASLSSLLGGAPPWGSLQDPDSQG
LSPAAAAPSQQLQRPDVRLRTPLLHPLVMGSLGKHAAPSAFSSGLPGALSQVAVTTLTRDSGAWVSHVANSVGPGLANNS
ALLGADPEAPAGRCLPLPPSLPVCGHLGISRFWLPNHLHHESGEQVRAGARAWGGLLQTHCHPFLAWFFCLLLVPPCGSV
PPPAPPPCCQFCEALQDACWSRLGGGRLPVACASLPTQEDGYCVLIGPAAERISEEVGLLQLLGDPPPQQVTQTDDPDVG
LAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKLSGVQDGHQDISLLYTEPGAG
QTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQRMPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVIAELKV
RRDPQVSPMHCLDEEGDDSDGASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVEEQTTV
ASLGAQTLPGSDSVSTWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSPCLPGPPGLPCPVSPLGPAGPALQTV
PGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTGPQGFPGTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDK
LTFIDMEGSGFGGDLEALRGPRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPPGPPGR
EGPPGRTGQKGSLGEAGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPPGPPGPGLPAGFDDMEGSGGPFWSTA
RSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADGVPGFPGLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGP
PGPPGPVVYVSEQDGSVLSVPGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQKGAKG
EPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLKGEKGEPGDASLGFGMRGMPGPPGPPGPPGPPGTPVYDSNVFAESS
RPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFDFLQLEAEMKGEKGDRGDAGQKGERGEPGGGGFFGSSLPGPPGPPG
PPGPRGYPGIPGPKGESIRGQPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGTMG
ASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDNEVAALQPPVVQLHDSNPYPR
REHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSYVHLRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGA
DFQCFQQARAVGLAGTFRAFLSSRLQDLYSIVRRTDRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKDVL
RHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHHAYIVLCIENSFMTASK*

Gene Symbol:COL18A1
Accession:NM_001379500
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 1220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPRCPWPWPRRRRLLDVLAPLVLLLGVRAASAEPERISEEVGLLQLLGDPPPQQVTQTDDPDVGLAYVFGPDANSGQVA
RYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKLSGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVG
QWTHLALSVAGGFVALYVDCEEFQRMPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVIAELKVRRDPQVSPMHCLDEE
GDDSDGASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVEEQTTVASLGAQTLPGSDSVS
TWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSPCLPGPPGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGT
PGRDGEPGDPGEDGKPGDTGPQGFPGTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDL
EALRGPRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPPGPPGREGPPGRTGQKGSLGE
AGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPPGPPGPGLPAGFDDMEGSGGPFWSTARSADGPQGPPGLPGL
KGDPGVPGLPGAKGEVGADGVPGFPGLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGPPGPPGPVVYVSEQDG
SVLSVPGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQKGAKGEPGFRGPPGPYGRPG
YKGEIGFPGRPGRPGMNGLKGEKGEPGDASLGFGMRGMPGPPGPPGPPGPPGTPVYDSNVFAESSRPGPPGLPGNQGPPG
PKGAKGEVGPPGPPGQFPFDFLQLEAEMKGEKGDRGDAGQKGERGEPGGGGFFGSSLPGPPGPPGPPGPRGYPGIPGPKG
ESIRGQPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGTMGASSGVRLWATRQAML
GQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDNEVAALQPPVVQLHDSNPYPRREHPHPTARPWRADD
ILASPPRLPEPQPYPGAPHHSSYVHLRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAG
TFRAFLSSRLQDLYSIVRRTDRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKDVLRHPTWPQKSVWHGSD
PNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHHAYIVLCIENSFMTASK*

Gene Symbol:SLC19A1
Accession:NM_001205206
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_194255
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001205207
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529700
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529696
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529702
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529703
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529698
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529706
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_017028443
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001352511
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001352510
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001352512
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440963
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440964
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440957
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440960
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440955
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440965
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440962
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440961
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440954
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440958
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440956
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440959
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000361790 CLINVAR
  RCV002523188 CLINVAR
dbSNP (RS) rs886057133 CLINVAR
MedGen C0950123 CLINVAR
  C1849409 CLINVAR
NCBI Gene COL18A1 CLINVAR
  SLC19A1 CLINVAR
OMIM 120328 CLINVAR
  267750 CLINVAR
  600424 CLINVAR