rs2147629977 Rat Genome Database

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Variant: rs2147629977 -  Homo sapiens

RGD ID: 127307150
RS ID: rs2147629977
ClinVar ID: CV1149243
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFAF5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 13,797,512
GRCh38 20 13,816,866
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001352406.2:c.302-9T>C
NM_001352407.2:c.302-9T>C
NM_001352403.2:c.392-9T>C
NM_001039375.3:c.779-9T>C
More... 		04/11/2020 intron variant likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

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_001352407
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NM_001352406
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_047440472
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440471
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440473
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

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001500395 CLINVAR
dbSNP (RS) rs2147629977 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFAF5 CLINVAR
OMIM 612360 CLINVAR