RGD:12839722 Rat Genome Database

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Variant: RGD:12839722 -  Homo sapiens

RGD ID: 12839722
RS ID: rs148864710
ClinVar ID: CV367901
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFSD8  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 128,842,709
GRCh38 4 127,921,554
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008657.1:g.49431A>G
NC_000004.12:g.127921554T>C
NC_000004.11:g.128842709T>C
LRG_833t1:c.1320A>G
More... 		12/23/2020 3 prime utr variant|synonymous variant likely benign MFSD8-Related Neuronal Ceroid-Lipofuscinosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MFSD8
Accession:XM_047449994
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_005262898
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_017007989
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_047449995
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_047449998
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:NM_001410766
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:NM_001371591
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 440
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQVSQGVYMGWLTASGSGARILGPMFISQVYA
HWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001410765
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNG
IILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSP
MEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPM
FISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001363521
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 335
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAASTDEAQVPQGNID
QVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLI
VVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVL
IGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKR
LIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_152778
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 440
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371593
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 402
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAVFQTCFTFLGEKGV
TWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFV
TLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWG
NQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSY
TLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE
*

Gene Symbol:MFSD8
Accession:XM_047449993
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGFILGPASTDEAQVPQGNIDQVAVVAI
NVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFF
ILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPV
CNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVR
YGRIQE*

Gene Symbol:MFSD8
Accession:XM_024453982
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 357
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQ
CKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVI
FLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSI
EQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRW
AFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371590
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKL
QINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFAL
FETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQ
WEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKIL
GPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001363520
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 373
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVL
YNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLW
KSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARIL
GPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371592
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 442
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPGRFFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVD
DSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGV
EAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERP
TGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAH
WGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371595
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 346
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGFILGPEHRVDDSGRQCKSINFEEAST
DEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKI
GERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVI
HLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVL
TITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371596
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 440
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:XM_047449992
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 346
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGFILGPEHRVDDSGRQCKSINFEEAST
DEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKI
GERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVI
HLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVL
TITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNG
IILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSP
MEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPM
FISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371594
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 391
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPEHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETI
ITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDL
HNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKP
QGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:XM_047449997
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449999
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000556763 CLINVAR
  RCV001718847 CLINVAR
  RCV002379299 CLINVAR
dbSNP (RS) rs148864710 CLINVAR
MedGen C0950123 CLINVAR
  C1838571 CLINVAR
  C3661900 CLINVAR
NCBI Gene MFSD8 CLINVAR
OMIM 610951 CLINVAR
  611124 CLINVAR