RGD:13465870 Rat Genome Database

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Variant: RGD:13465870 -  Homo sapiens

RGD ID: 13465870
RS ID: rs768048172
ClinVar ID: CV461739
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHAF2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 61,213,539
GRCh38 11 61,446,067
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017841.2:c.497G>A
NG_023393.1:g.20943G>A
NP_060311.1:p.Arg166His
NP_060311.1:p.Arg166His
More... 		06/23/2021 missense variant likely benign|uncertain significance Cancer predisposition; Glomus tumors, familial, 2; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Neoplastic Syndromes, Hereditary; PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 2; SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 2); Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SDHAF2
Accession:NM_017841
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVSTVFSTSSLMLALSRHSLLSPLLSVTSFRRFYRGDSPTDSQKDMIEIPLPPWQERTDESIETKRARLLYESRKRGML
ENCILLSLFAKEHLQHMTEKQLNLYDRLINEPSNDWDIYYWATEAKPAPEIFENEVMALLRDFAKNKNKEQRLRAPDLEY
LFEKPH*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000543075 CLINVAR
  RCV002341319 CLINVAR
  RCV002497119 CLINVAR
dbSNP (RS) rs768048172 CLINVAR
MedGen C0027672 CLINVAR
  C1708353 CLINVAR
  C1866552 CLINVAR
NCBI Gene SDHAF2 CLINVAR
OMIM 601650 CLINVAR
  613019 CLINVAR
SNOMED CT 699346009 CLINVAR