RGD:26906907 Rat Genome Database

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Variant: RGD:26906907 -  Homo sapiens

RGD ID: 26906907
RS ID: rs756917732
ClinVar ID: CV838584
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHAF2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 61,205,160
GRCh38 11 61,437,688
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_519t1:c.100T>C
NM_017841.4:c.100T>C
LRG_519:g.12564T>C
NG_023393.1:g.12564T>C
More... 		12/16/2019 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: F to L (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVSTVFSTSSLMLALSRHSLLSPLLSVTSFRRLYRGDSPTDSQKDMIEIPLPPWQERTDESIETKRARLLYESRKRGML
ENCILLSLFAKEHLQHMTEKQLNLYDRLINEPSNDWDIYYWATEAKPAPEIFENEVMALLRDFAKNKNKEQRLRAPDLEY
LFEKPR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001037693 CLINVAR
  RCV002434440 CLINVAR
dbSNP (RS) rs756917732 CLINVAR
MedGen C0027672 CLINVAR
  C1708353 CLINVAR
NCBI Gene SDHAF2 CLINVAR
OMIM 613019 CLINVAR
SNOMED CT 699346009 CLINVAR