RGD:8599153 Rat Genome Database

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Variant: RGD:8599153 -  Homo sapiens

RGD ID: 8599153
RS ID: rs74315372
ClinVar ID: CV27826
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHB  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 17,355,123
GRCh38 1 17,028,628
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012340.1:g.30543A>C
NC_000001.11:g.17028628T>G
NC_000001.10:g.17355123T>G
NP_002991.2:p.His132Pro
More... 		12/05/2018 missense|missense variant pathogenic|likely pathogenic childhood 1-9 / 1 000 000 Cancer predisposition; CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS; Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Gastrointestinal stroma tumor; Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Medullary paraganglioma; Neoplastic Syndromes, Hereditary; Paraganglioma, familial malignant; Paragangliomas 4; Paragangliomas, hereditary extraadrenal; Pheochromocytoma; Pheochromocytoma, extraadrenal and cervical paraganglioma; Pheochromocytoma, familial extraadrenal; PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4; SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 4); Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SDHB
Accession:NM_003000
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKVSKIYPLPPMYVIKDLVPDLSNFYAQYKSIEPYLKKK
DESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV*

Gene Symbol:SDHB
Accession:NM_001407361
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:14715873   PMID:20702724   PMID:28492532   PMID:31492822  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000013628 CLINVAR
  RCV001021521 CLINVAR
  RCV001857343 CLINVAR
dbSNP (RS) rs74315372 CLINVAR
MedGen C0027672 CLINVAR
  C0238198 CLINVAR
  C1861848 CLINVAR
NCBI Gene SDHB CLINVAR
OMIM 115310 CLINVAR
  171300 CLINVAR
  185470 CLINVAR
  606764 CLINVAR
OMIM Allele 185470.0010 CLINVAR
SNOMED CT 699346009 CLINVAR