RGD:329846572 Rat Genome Database

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Variant: RGD:329846572 -  Homo sapiens

RGD ID: 329846572
ClinVar ID: CV2523793
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFSD8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 128,878,742
GRCh38 4 127,957,587
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001371590.2:c.-68G>A
NP_001358522.1:p.Trp23Ter
NP_001358523.1:p.Trp23Ter
NP_001358525.1:p.Trp23Ter
More... 		05/02/2023 5 prime utr variant likely pathogenic MFSD8-Related Neuronal Ceroid-Lipofuscinosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MFSD8
Accession:XM_024453982
Location:5UTRS;EXON

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

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

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

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

Gene Symbol:MFSD8
Accession:XM_047449998
Location:5UTRS;EXON

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

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

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

Gene Symbol:MFSD8
Accession:NM_152778
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:XM_005262898
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKFAQ*

Gene Symbol:MFSD8
Accession:XM_017007989
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVL
YNGIILAALGVEAVVIFLGVKLLSKKFAQ*

Gene Symbol:MFSD8
Accession:NM_001363521
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAASTDEAQVPQGNID
QVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLI
VVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVL
IGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKR
LIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371593
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAVFQTCFTFLGEKGV
TWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFV
TLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWG
NQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSY
TLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE
*

Gene Symbol:MFSD8
Accession:NM_001363520
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVL
YNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLW
KSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARIL
GPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371594
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPEHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETI
ITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDL
HNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKP
QGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371596
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371591
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQVSQGVYMGWLTASGSGARILGPMFISQVYA
HWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371592
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPGRFFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVD
DSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGV
EAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERP
TGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAH
WGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:XM_047449994
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPEHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETI
ITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKFAQ*

Gene Symbol:MFSD8
Accession:XM_047449997
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPENIVWMTQEDSVKVLILKKQVQMKLRFPKEILTRLLLWPSMFCFL*

Gene Symbol:MFSD8
Accession:NM_001410766
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSRE*DILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAVFQTCFTFLGEKGV
TWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFV
TLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKFAQ*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003226083 CLINVAR
MedGen C1838571 CLINVAR
NCBI Gene MFSD8 CLINVAR
OMIM 610951 CLINVAR
  611124 CLINVAR