RGD:155749438 Rat Genome Database

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Variant: RGD:155749438 -  Homo sapiens

RGD ID: 155749438
ClinVar ID: CV1773827
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFSD8  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 128,878,698
GRCh38 4 127,957,543
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_833t1:c.112T>G
LRG_833t2:c.112T>G
NM_001371590.2:c.-24T>G
NM_001371595.1:c.-24T>G
More... 		08/09/2022 5 prime utr variant uncertain significance MFSD8-Related Neuronal Ceroid-Lipofuscinosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MFSD8
Accession:XM_047449998
Location:5UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_047449999
Location:5UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_024453982
Location:5UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_047449992
Location:5UTRS;EXON

Gene Symbol:MFSD8
Accession:NM_001410765
Location:5UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_047449993
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:MFSD8
Accession:NM_001371595
Location:5UTRS;EXON

Gene Symbol:MFSD8
Accession:NM_001371590
Location:5UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_047449995
Location:5UTRS;EXON

Gene Symbol:MFSD8
Accession:NM_001371593
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAVFQTCFTFLGEKGV
TWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFV
TLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWG
NQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSY
TLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE
*

Gene Symbol:MFSD8
Accession:NM_001363520
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVL
YNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLW
KSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARIL
GPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001410766
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAVFQTCFTFLGEKGV
TWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFV
TLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKFAQ*

Gene Symbol:MFSD8
Accession:NM_001371592
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPGRFFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVD
DSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGV
EAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERP
TGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAH
WGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:XM_047449994
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPEHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETI
ITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKFAQ*

Gene Symbol:MFSD8
Accession:XM_005262898
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKFAQ*

Gene Symbol:MFSD8
Accession:XM_017007989
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVL
YNGIILAALGVEAVVIFLGVKLLSKKFAQ*

Gene Symbol:MFSD8
Accession:NM_001363521
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAASTDEAQVPQGNID
QVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLI
VVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVL
IGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKR
LIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:XM_047449997
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPENIVWMTQEDSVKVLILKKQVQMKLRFPKEILTRLLLWPSMFCFL*

Gene Symbol:MFSD8
Accession:NM_152778
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371596
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAVFQTCFTFLGEKGV
TWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFV
TLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKFAQ*

Gene Symbol:MFSD8
Accession:NM_001371594
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPEHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETI
ITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDL
HNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKP
QGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371591
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRAIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQVSQGVYMGWLTASGSGARILGPMFISQVYA
HWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002304651 CLINVAR
MedGen C1838571 CLINVAR
NCBI Gene MFSD8 CLINVAR
OMIM 610951 CLINVAR
  611124 CLINVAR