RGD:28893902 Rat Genome Database

Variant: RGD:28893902 - Homo sapiens

RGD ID:

28893902

RS ID:

rs868732642

ClinVar ID:

CV859333

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MFSD8

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	128,859,937
GRCh38	4	127,938,782

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_152778.3:c.754+1G>A NM_001371596.2:c.754+1G>A LRG_833t2:c.754+1G>A LRG_833t1:c.754+1G>A More...	11/30/2020	intron variant\|splice donor variant	pathogenic	MFSD8-Related Neuronal Ceroid-Lipofuscinosis; none provided

Disease Annotations Click to see Annotation Detail View

Macular Dystrophy with Central Cone Involvement (IAGP)

neuronal ceroid lipofuscinosis 7 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	MFSD8
Accession:	XM_047449993
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_001371592
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	XM_005262898
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_001371594
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_001371591
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	XM_047449995
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_001363521
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_001371593
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_001371595
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_001363520
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	XM_047449999
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	XM_047449997
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_001410766
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	XM_024453982
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_001371590
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_001371596
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	XM_047449994
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_152778
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	XM_047449992
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	XM_047449998
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	XM_017007989
Location:	INTRON

Gene Symbol:	MFSD8
Accession:	NM_001410765
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:16199547	PMID:17564970	PMID:19177532	PMID:19201763	PMID:21990111	PMID:25227500	PMID:25741868	PMID:28492532	PMID:28586915

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001092642	CLINVAR
	RCV001204062	CLINVAR
	RCV001706719	CLINVAR
dbSNP (RS)	rs868732642	CLINVAR
MedGen	C1838571	CLINVAR
	C3661900	CLINVAR
	C4015371	CLINVAR
NCBI Gene	MFSD8	CLINVAR
OMIM	610951	CLINVAR
	611124	CLINVAR
	616170	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:28893902 - Homo sapiens

Imported Disease Annotations - ClinVar