RGD:14712939 Rat Genome Database

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Variant: RGD:14712939 -  Homo sapiens

RGD ID: 14712939
RS ID: rs73090111
ClinVar ID: CV658857
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 228,220,227
GRCh38 2 227,355,511
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001277064.2:c.501-166T>C
NM_001277066.2:c.441-166T>C
NM_001277067.1:c.450-166T>C
NM_001277063.2:c.516-166T>C
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MFF
Accession:XM_047445128
Location:INTRON

Gene Symbol:MFF
Accession:NM_020194
Location:INTRON

Gene Symbol:MFF
Accession:NM_001277061
Location:INTRON

Gene Symbol:MFF
Accession:NM_001277063
Location:INTRON

Gene Symbol:MFF
Accession:NM_001277062
Location:INTRON

Gene Symbol:MFF
Accession:XM_011511500
Location:INTRON

Gene Symbol:MFF
Accession:NM_001277066
Location:INTRON

Gene Symbol:MFF
Accession:XM_047445130
Location:INTRON

Gene Symbol:MFF
Accession:XM_024453009
Location:INTRON

Gene Symbol:MFF
Accession:XM_047445132
Location:INTRON

Gene Symbol:MFF
Accession:XM_017004512
Location:INTRON

Gene Symbol:MFF
Accession:XM_047445131
Location:INTRON

Gene Symbol:MFF
Accession:XM_047445133
Location:INTRON

Gene Symbol:MFF
Accession:NM_001277065
Location:INTRON

Gene Symbol:MFF
Accession:XM_006712637
Location:INTRON

Gene Symbol:MFF
Accession:XM_047445129
Location:INTRON

Gene Symbol:MFF
Accession:NM_001277068
Location:INTRON

Gene Symbol:MFF
Accession:NM_001277067
Location:INTRON

Gene Symbol:MFF
Accession:XM_047445127
Location:INTRON

Gene Symbol:MFF
Accession:NM_001277064
Location:INTRON

Gene Symbol:MFF
Accession:NR_102266
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000828576 CLINVAR
dbSNP (RS) rs73090111 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MFF CLINVAR
OMIM 614785 CLINVAR