RGD:13532644 Rat Genome Database

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Variant: RGD:13532644 -  Homo sapiens

RGD ID: 13532644
RS ID: rs138346574
ClinVar ID: CV507442
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FDX2  FDX2-ZGLP1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 10,426,590
GRCh38 19 10,315,914
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.10315914C>G
NG_034259.1:g.5102G>C
NM_001031734.3:c.92G>C
NC_000019.9:g.10426590C>G
More... 		12/17/2021 missense variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FDX2
Accession:NM_001397406
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASMARGGVSARVLLQAARGTWWNRPAGTSGSGEGVALGTTRKFQATGSRPAGEEDAGGPERPGDVVNVVFVDRSGQRI
PVSGRVGDNVLHLAQRHGVDLEGACEASLACSTCHVYVSEDHLDLLPPPEEREDDMLDMAPLLQENSRLGCQIVLTPELE
GAEFTLPKITRNFYVDGHVPKPH*

Gene Symbol:FDX2-ZGLP1
Accession:NR_176051
Location:EXON;NON-CODING

Gene Symbol:FDX2-ZGLP1
Accession:NR_176052
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001515027 CLINVAR
  RCV003905653 CLINVAR
dbSNP (RS) rs138346574 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FDX2 CLINVAR
  FDX2-ZGLP1 CLINVAR
OMIM 614585 CLINVAR