RGD:8688397 Rat Genome Database

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Variant: RGD:8688397 -  Homo sapiens

RGD ID: 8688397
RS ID: rs35962811
ClinVar ID: CV138931
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 17,371,286
GRCh38 1 17,044,791
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.14380A>G
NC_000001.11:g.17044791T>C
NC_000001.10:g.17371286T>C
NP_002991.2:p.His57Arg
More... 		12/31/2019 missense variant benign|likely benign|not provided adolescent|all ages|childhood|variable 1-5 / 10 000|1-9 / 1 000 000|<1 / 1 000 000 AllHighlyPenetrant; Cancer predisposition; Carney dyad; Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma; CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS; Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Cowden; Cowden disease; Cowden's disease; Cowden's syndrome; Gastrointestinal stroma tumor; Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Medullary paraganglioma; Multiple hamartoma syndrome; Neoplastic Syndromes, Hereditary; none provided; Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; 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
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 R (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPRMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKK
DESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV*

Gene Symbol:SDHB
Accession:NM_001407361
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPRMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEERE
KLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSLYRCHTIMNCTRTCPKGLN
PGKAIAEIKKMMATYKEKKASV*
Variant Samples
Additional References at PubMed
PMID:17376234   PMID:21979946   PMID:24033266   PMID:24728327   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000122000 CLINVAR
  RCV000129655 CLINVAR
  RCV000148867 CLINVAR
  RCV000301812 CLINVAR
  RCV000358920 CLINVAR
  RCV000513898 CLINVAR
  RCV001083041 CLINVAR
  RCV003315777 CLINVAR
dbSNP (RS) rs35962811 CLINVAR
MedGen C0018553 CLINVAR
  C0027672 CLINVAR
  C0238198 CLINVAR
  C1708353 CLINVAR
  C1847319 CLINVAR
  C1861848 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SDHB CLINVAR
OMIM 115310 CLINVAR
  158350 CLINVAR
  171300 CLINVAR
  185470 CLINVAR
  606764 CLINVAR
  606864 CLINVAR
SNOMED CT 58037000 CLINVAR
  699346009 CLINVAR