RGD:12833555 Rat Genome Database

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Variant: RGD:12833555 -  Homo sapiens

RGD ID: 12833555
RS ID: rs1057523221
ClinVar ID: CV369439
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFA4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 10,979,690
GRCh38 7 10,940,063
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_050627.1:g.5124G>A
NC_000007.14:g.10940063C>T
NC_000007.13:g.10979690C>T
NM_002489.4:c.-6G>A
More... 		08/30/2016 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NDUFA4
Accession:NM_002489
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000418740 CLINVAR
dbSNP (RS) rs1057523221 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NDUFA4 CLINVAR
OMIM 603833 CLINVAR