rs1358923878 Rat Genome Database

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Variant: rs1358923878 -  Homo sapiens

RGD ID: 151865575
RS ID: rs1358923878
ClinVar ID: CV1495142
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHAF2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 61,205,486
GRCh38 11 61,438,014
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017841.4:c.271A>G
LRG_519:g.12890A>G
NG_023393.1:g.12890A>G
NC_000011.10:g.61438014A>G
More... 		07/30/2021 missense variant uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SDHAF2
Accession:NM_017841
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVSTVFSTSSLMLALSRHSLLSPLLSVTSFRRFYRGDSPTDSQKDMIEIPLPPWQERTDESIETKRARLLYESRKRGML
ENCILLSLFAEEHLQHMTEKQLNLYDRLINEPSNDWDIYYWATEAKPAPEIFENEVMALLRDFAKNKNKEQRLRAPDLEY
LFEKPR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001980674 CLINVAR
dbSNP (RS) rs1358923878 CLINVAR
MedGen C1708353 CLINVAR
NCBI Gene SDHAF2 CLINVAR
OMIM 613019 CLINVAR