RGD:12833521 Rat Genome Database

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Variant: RGD:12833521 -  Homo sapiens

RGD ID: 12833521
RS ID: rs1057520312
ClinVar ID: CV369006
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFSD8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 128,843,118
GRCh38 4 127,921,963
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152778.2:c.999G>A
NG_008657.1:g.49022G>A
NC_000004.12:g.127921963C>T
NC_000004.11:g.128843118C>T
More... 		04/20/2023 intron variant|synonymous variant likely benign|uncertain significance AllHighlyPenetrant; MFSD8-Related Neuronal Ceroid-Lipofuscinosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MFSD8
Accession:NM_152778
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_005262898
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_017007989
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_024453982
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371590
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371595
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001363521
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371593
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001363520
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371594
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371596
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371591
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371592
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449993
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449992
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449998
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449995
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449994
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449999
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449997
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001410765
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001410766
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28794409  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000418664 CLINVAR
  RCV003223403 CLINVAR
dbSNP (RS) rs1057520312 CLINVAR
MedGen C1838571 CLINVAR
  CN169374 CLINVAR
NCBI Gene MFSD8 CLINVAR
OMIM 610951 CLINVAR
  611124 CLINVAR