RGD:150445121 Rat Genome Database

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Variant: RGD:150445121 -  Homo sapiens

RGD ID: 150445121
RS ID: rs4134435
ClinVar ID: CV1249522
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFSD8  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 128,859,747
GRCh38 4 127,938,592
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_833t1:c.754+191T>A
LRG_833t2:c.754+191T>A
NM_001371595.1:c.472+191T>A
NM_001371596.2:c.754+191T>A
More... 		08/10/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MFSD8
Accession:NM_001371594
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371596
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_005262898
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371591
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001410766
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371595
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449994
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371593
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_152778
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001363520
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449998
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449997
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371590
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371592
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449999
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001363521
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001410765
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449993
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449992
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449995
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_017007989
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_024453982
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001666955 CLINVAR
dbSNP (RS) rs4134435 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MFSD8 CLINVAR
OMIM 611124 CLINVAR