RGD:14718750 Rat Genome Database

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Variant: RGD:14718750 -  Homo sapiens

RGD ID: 14718750
RS ID: rs13038630
ClinVar ID: CV670137
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFAF5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 13,775,157
GRCh38 20 13,794,511
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015811.1:g.14486T>C
NM_001352406.2:c.-186-327T>C
NM_001352407.2:c.-186-327T>C
NM_024120.5:c.376-327T>C
More... 		06/19/2018 intron variant benign none provided

Variant Details
Variant Transcripts
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_001352406
Location:5UTRS;INTRON

Gene Symbol:NDUFAF5
Accession:NM_001352408
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440469
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440471
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440470
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NM_001352403
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NM_001039375
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_006723624
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NM_024120
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_011529342
Location:INTRON

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

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000830489 CLINVAR
dbSNP (RS) rs13038630 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFAF5 CLINVAR
OMIM 612360 CLINVAR