RGD:10057353 Rat Genome Database

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Variant: RGD:10057353 -  Homo sapiens

RGD ID: 10057353
RS ID: rs570278423
ClinVar ID: CV196493
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 17,359,572
GRCh38 1 17,033,077
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012340.1:g.26094G>A
NC_000001.11:g.17033077C>T
NC_000001.10:g.17359572C>T
NP_002991.2:p.Arg90Gln
More...
09/17/2020 missense variant likely pathogenic|uncertain significance 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; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Medullary paraganglioma; Neoplastic Syndromes, Hereditary; none provided; 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: R to Q (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFQRSCREGICGSCAMNINGGNTLACTRRIDTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKK
DESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV*

Gene Symbol:SDHB
Accession:NM_001407361
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFQRSCREGICGSCAMNINGGNTLACTRRIDTNLNKDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEERE
KLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSLYRCHTIMNCTRTCPKGLN
PGKAIAEIKKMMATYKEKKASV*

Variant Samples
Additional References at PubMed
PMID:17102082   PMID:19351833   PMID:20208144   PMID:21520333   PMID:23175444   PMID:25741868   PMID:26102504   PMID:26269449   PMID:28492532   PMID:31216007   PMID:33558524   PMID:34906457  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000492424 CLINVAR
  RCV000550029 CLINVAR
  RCV000782211 CLINVAR
  RCV001004837 CLINVAR
  RCV001778775 CLINVAR
dbSNP (RS) rs570278423 CLINVAR
MedGen C0027672 CLINVAR
  C0238198 CLINVAR
  C1708353 CLINVAR
  C3661900 CLINVAR
  CN235586 CLINVAR
NCBI Gene SDHB CLINVAR
OMIM 115310 CLINVAR
  171300 CLINVAR
  185470 CLINVAR
  606764 CLINVAR
SNOMED CT 699346009 CLINVAR