RGD:127336551 Rat Genome Database

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Variant: RGD:127336551 -  Homo sapiens

RGD ID: 127336551
RS ID: rs1260768784
ClinVar ID: CV1109687
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 17,345,391
GRCh38 1 17,018,896
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003000.3:c.828G>A
LRG_316:g.40275G>A
NG_012340.1:g.40275G>A
NC_000001.11:g.17018896C>T
More... 		05/13/2020 synonymous variant likely benign 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_001407361
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEERE
KLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSLYRCHTIMNCTRTCPKGLN
PGKAIAEIKKMMATYKEKKASV*

Gene Symbol:SDHB
Accession:NM_003000
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKK
DESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001475037 CLINVAR
  RCV002432328 CLINVAR
dbSNP (RS) rs1260768784 CLINVAR
MedGen C0027672 CLINVAR
  C0238198 CLINVAR
NCBI Gene SDHB CLINVAR
OMIM 115310 CLINVAR
  171300 CLINVAR
  185470 CLINVAR
  606764 CLINVAR
SNOMED CT 699346009 CLINVAR