RGD:9691269 Rat Genome Database

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Variant: RGD:9691269 -  Homo sapiens

RGD ID: 9691269
RS ID: rs727502801
ClinVar ID: CV172084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFSD8  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 128,854,136
GRCh38 4 127,932,981
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008657.1:g.38003_38004insT
NC_000004.12:g.127932981_127932982insA
NC_000004.11:g.128854136_128854137insA
LRG_833t1:c.863+3_863+4insT
More... 		01/08/2015 intron variant pathogenic|not provided childhood 1-9 / 1 000 000 MFSD8-Related Neuronal Ceroid-Lipofuscinosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MFSD8
Accession:XM_047449999
Location:3UTRS;INTRON

Gene Symbol:MFSD8
Accession:XM_047449997
Location:3UTRS;INTRON

Gene Symbol:MFSD8
Accession:NM_001371593
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001410765
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371595
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001363520
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001410766
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371590
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371596
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_152778
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371592
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449992
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449995
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_005262898
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_017007989
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_024453982
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371591
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449993
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449998
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449994
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001363521
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371594
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19177532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000149776 CLINVAR
dbSNP (RS) rs727502801 CLINVAR
MedGen C1838571 CLINVAR
NCBI Gene MFSD8 CLINVAR
OMIM 610951 CLINVAR
  611124 CLINVAR
OMIM Allele 611124.0011 CLINVAR