RGD:14739373 Rat Genome Database

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Variant: RGD:14739373 -  Homo sapiens

RGD ID: 14739373
RS ID: rs775350144
ClinVar ID: CV627117
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 17,380,468
GRCh38 1 17,053,973
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.47C>T
NP_002991.2:p.Thr16Ile
LRG_316t1:c.47C>T
NC_000001.10:g.17380468G>A
More... 		08/15/2018 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: T to I (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPAITLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKK
DESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV*

Gene Symbol:SDHB
Accession:NM_001407361
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPAITLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEERE
KLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSLYRCHTIMNCTRTCPKGLN
PGKAIAEIKKMMATYKEKKASV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000821339 CLINVAR
dbSNP (RS) rs775350144 CLINVAR
MedGen C0238198 CLINVAR
NCBI Gene SDHB CLINVAR
OMIM 115310 CLINVAR
  171300 CLINVAR
  185470 CLINVAR
  606764 CLINVAR