RGD:14725390 Rat Genome Database

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Variant: RGD:14725390 -  Homo sapiens

RGD ID: 14725390
RS ID: rs761295633
ClinVar ID: CV627081
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHB  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 17,349,103
GRCh38 1 17,022,608
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.765G>C
NP_002991.2:p.Lys255Asn
NC_000001.11:g.17022608C>G
LRG_316t1:c.765G>C
More... 		05/02/2019 missense variant uncertain significance 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; Medullary paraganglioma; 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)
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: K to N (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKK
DESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
YRCHTIMNCTRTCPNGLNPGKAIAEIKKMMATYKEKKASV*

Gene Symbol:SDHB
Accession:NM_001407361
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEERE
KLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSLYRCHTIMNCTRTCPNGLN
PGKAIAEIKKMMATYKEKKASV*
Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000815177 CLINVAR
dbSNP (RS) rs761295633 CLINVAR
MedGen C0238198 CLINVAR
NCBI Gene SDHB CLINVAR
OMIM 115310 CLINVAR
  171300 CLINVAR
  185470 CLINVAR
  606764 CLINVAR