RGD:13499839 Rat Genome Database

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Variant: RGD:13499839 -  Homo sapiens

RGD ID: 13499839
RS ID: rs1361460244
ClinVar ID: CV476449
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHAF2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 61,205,097
GRCh38 11 61,437,625
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_060311.1:p.Met13Leu
NM_017841.2:c.37A>T
NC_000011.9:g.61205097A>T
NM_017841.4:c.37A>T
More... 		04/17/2018 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Neoplastic Syndromes, Hereditary; 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: M to L (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVSTVFSTSSLLLALSRHSLLSPLLSVTSFRRFYRGDSPTDSQKDMIEIPLPPWQERTDESIETKRARLLYESRKRGML
ENCILLSLFAKEHLQHMTEKQLNLYDRLINEPSNDWDIYYWATEAKPAPEIFENEVMALLRDFAKNKNKEQRLRAPDLEY
LFEKPR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000573855 CLINVAR
  RCV000689080 CLINVAR
dbSNP (RS) rs1361460244 CLINVAR
MedGen C0027672 CLINVAR
  C1708353 CLINVAR
NCBI Gene SDHAF2 CLINVAR
OMIM 613019 CLINVAR
SNOMED CT 699346009 CLINVAR