RGD:25325320 Rat Genome Database

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Variant: RGD:25325320 -  Homo sapiens

RGD ID: 25325320
RS ID: rs1570958009
ClinVar ID: CV806503
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 17,371,299
GRCh38 1 17,044,804
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_316t1:c.157G>A
NM_003000.3:c.157G>A
LRG_316:g.14367G>A
NG_012340.1:g.14367G>A
More... 		03/26/2018 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SDHB
Accession:NM_001407361
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKARDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEERE
KLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSLYRCHTIMNCTRTCPKGLN
PGKAIAEIKKMMATYKEKKASV*

Gene Symbol:SDHB
Accession:NM_003000
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKARDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKK
DESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV*
Variant Samples
Additional References at PubMed
PMID:15328326  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001012281 CLINVAR
dbSNP (RS) rs1570958009 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene SDHB CLINVAR
OMIM 185470 CLINVAR
SNOMED CT 699346009 CLINVAR