rs56211127 Rat Genome Database

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Variant: rs56211127 -  Homo sapiens

RGD ID: 150482952
RS ID: rs56211127
ClinVar ID: CV1247539
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFAF5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 13,775,872
GRCh38 20 13,795,226
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001352406.2:c.-83+285T>C
NM_001352407.2:c.-83+285T>C
NM_001039375.3:c.395+1999T>C
NM_001352408.2:c.479+285T>C
More... 		07/07/2018 intron variant benign none provided

Gene Symbol:NDUFAF5
Accession:NM_001352407
Location:5UTRS;INTRON

Gene Symbol:NDUFAF5
Accession:NM_001352406
Location:5UTRS;INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440472
Location:5UTRS;INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440473
Location:5UTRS;INTRON

Gene Symbol:NDUFAF5
Accession:NM_024120
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NM_001039375
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_006723624
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_011529342
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NM_001352403
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NM_001352408
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440469
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440470
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440471
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NR_029377
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF5
Accession:XR_937140
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147983
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147982
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147981
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147979
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147978
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147980
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV001673365 CLINVAR
dbSNP (RS) rs56211127 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFAF5 CLINVAR
OMIM 612360 CLINVAR