RGD:38483403 Rat Genome Database

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Variant: RGD:38483403 -  Homo sapiens

RGD ID: 38483403
RS ID: rs1449062348
ClinVar ID: CV939956
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFSD8  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 128,865,148
GRCh38 4 127,943,993
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_833t1:c.199-1G>C
NM_152778.4:c.199-1G>C
NM_001371596.2:c.199-1G>C
NM_001371595.1:c.64-1G>C
More... 		09/23/2019 splice acceptor variant likely pathogenic 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:16199547   PMID:19177532   PMID:25227500   PMID:28492532   PMID:28586915  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001207633 CLINVAR
dbSNP (RS) rs1449062348 CLINVAR
MedGen C1838571 CLINVAR
NCBI Gene MFSD8 CLINVAR
OMIM 610951 CLINVAR
  611124 CLINVAR