RGD:9850984 Rat Genome Database

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Variant: RGD:9850984 -  Homo sapiens

RGD ID: 9850984
RS ID: rs34916635
ClinVar ID: CV181623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 17,371,298
GRCh38 1 17,044,803
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.14368G>A
NC_000001.11:g.17044803C>T
NC_000001.10:g.17371298C>T
p.G53E
More... 		12/07/2020 missense variant benign|likely benign|uncertain significance|not provided adolescent|childhood 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; Carney-Stratakis syndrome; CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS; Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Cowden syndrome 1; 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; 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_001407361
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAEDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEERE
KLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSLYRCHTIMNCTRTCPKGLN
PGKAIAEIKKMMATYKEKKASV*

Gene Symbol:SDHB
Accession:NM_003000
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAEDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKK
DESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV*
Variant Samples
Additional References at PubMed
PMID:19802898   PMID:20923864   PMID:21979946   PMID:23072324   PMID:23512077   PMID:25694510   PMID:25741868   PMID:26467025   PMID:28492532   PMID:30152102  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000163315 CLINVAR
  RCV000266464 CLINVAR
  RCV000323978 CLINVAR
  RCV000602372 CLINVAR
  RCV000709876 CLINVAR
  RCV000713176 CLINVAR
  RCV001081765 CLINVAR
  RCV003514320 CLINVAR
  RCV003927536 CLINVAR
dbSNP (RS) rs34916635 CLINVAR
MedGen 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 699346009 CLINVAR