RGD:14713683 Rat Genome Database

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Variant: RGD:14713683 -  Homo sapiens

RGD ID: 14713683
RS ID: rs73612314
ClinVar ID: CV670132
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130065434  NDUFAF5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 13,769,062
GRCh38 20 13,788,416
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.10:g.13769062T>C
NM_024120.4:c.264-173T>C
NM_024120.5:c.264-173T>C
NM_001352406.2:c.-318-173T>C
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFAF5
Accession:NM_001352403
Location:5UTRS;INTRON

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

Gene Symbol:NDUFAF5
Accession:XM_006723624
Location:5UTRS;INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440471
Location:5UTRS;INTRON

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

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

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

Gene Symbol:NDUFAF5
Accession:NM_001039375
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_011529342
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440469
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NM_001352408
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NM_024120
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440470
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_147982
Location:INTRON;NON-CODING

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000828790 CLINVAR
dbSNP (RS) rs73612314 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC130065434 CLINVAR
  NDUFAF5 CLINVAR
OMIM 612360 CLINVAR