RGD:402502705 Rat Genome Database

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Variant: RGD:402502705 -  Homo sapiens

RGD ID: 402502705
ClinVar ID: CV2894698
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127401499  MFSD8  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 128,886,287
GRCh38 4 127,965,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_689991.1:p.Met1Thr
LRG_833t1:c.2T>C
LRG_833t2:c.2T>C
NM_001371595.1:c.-132T>C
More... 		08/16/2023 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:NM_001371595
Location:5UTRS;EXON

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

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

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

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

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

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

Gene Symbol:MFSD8
Accession:XM_024453982
Location:5UTRS;INTRON

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

Gene Symbol:MFSD8
Accession:NM_001363520
Location:EXON

Gene Symbol:MFSD8
Accession:XM_047449994
Location:EXON

Gene Symbol:MFSD8
Accession:XM_005262898
Location:EXON

Gene Symbol:MFSD8
Accession:XM_047449997
Location:EXON

Gene Symbol:MFSD8
Accession:NM_001371592
Location:EXON

Gene Symbol:MFSD8
Accession:NM_001371593
Location:EXON

Gene Symbol:MFSD8
Accession:NM_152778
Location:EXON

Gene Symbol:MFSD8
Accession:NM_001363521
Location:EXON

Gene Symbol:MFSD8
Accession:NM_001371594
Location:EXON

Gene Symbol:MFSD8
Accession:NM_001371596
Location:EXON

Gene Symbol:MFSD8
Accession:NM_001371591
Location:EXON

Gene Symbol:MFSD8
Accession:XM_017007989
Location:EXON

Gene Symbol:MFSD8
Accession:NM_001410766
Location:EXON

Variant Samples
Additional References at PubMed
PMID:19177532   PMID:28492532   PMID:32037395  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003494654 CLINVAR
MedGen C1838571 CLINVAR
NCBI Gene MFSD8 CLINVAR
OMIM 610951 CLINVAR
  611124 CLINVAR