RGD:13607259 Rat Genome Database

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Variant: RGD:13607259 -  Homo sapiens

RGD ID: 13607259
RS ID: rs753554501
ClinVar ID: CV526281
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHAF2  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 61,205,520
GRCh38 11 61,438,048
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.305_306insA
NM_017841.4:c.305_306insA
NP_060311.1:p.Asn103fs
NC_000011.9:g.61205520_61205521insA
More... 		09/05/2020 frameshift variant pathogenic|likely pathogenic|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; none provided; 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: L to H (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVSTVFSTSSLMLALSRHSLLSPLLSVTSFRRFYRGDSPTDSQKDMIEIPLPPWQERTDESIETKRARLLYESRKRGML
ENCILLSLFAKEHLQHMTEKQHNLYDRLINEPSNDWDIYYWATEAKPAPEIFENEVMALLRDFAKNKNKEQRLRAPDLEY
LFEKPR*
Variant Samples
Additional References at PubMed
PMID:22241717   PMID:25741868   PMID:26096992   PMID:28492532   PMID:31687641   PMID:35668420  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000639336 CLINVAR
  RCV001018326 CLINVAR
  RCV001766368 CLINVAR
  RCV003472006 CLINVAR
dbSNP (RS) rs753554501 CLINVAR
MedGen C0027672 CLINVAR
  C1708353 CLINVAR
  C1866552 CLINVAR
  C3661900 CLINVAR
NCBI Gene SDHAF2 CLINVAR
OMIM 601650 CLINVAR
  613019 CLINVAR
SNOMED CT 699346009 CLINVAR