RGD:243060517 Rat Genome Database

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Variant: RGD:243060517 -  Homo sapiens

RGD ID: 243060517
ClinVar ID: CV2411143
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SGCB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 52,899,719
GRCh38 4 52,033,553
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_204t1:c.121A>G
NM_000232.5:c.121A>G
LRG_204:g.9767A>G
NG_008891.1:g.9767A>G
More... 		05/05/2021 missense variant uncertain significance Beta-sarcoglycan limb-girdle muscular dystrophy; Limb-girdle muscular dystrophy, type 2E; Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SGCB
Accession:NM_000232
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAAAAAEQQSSNGPVKKSMREKAVERRSVNKEHNSNFEAGYIPIDEDRLHKTGLRGRKGNLAICVIILLFILAVINL
IITLVIWAVIRIGPNGCDSMEFHESGLLRFKQVSDMGVIHPLYKSTVGGRRNENLVITGNNQPIVFQQGTTKLSVENNKT
SITSDIGMQFFDPRTQNILFSTDYETHEFHLPSGVKSLNVQKASTERITSNATSDLNIKVDGRAIVRGNEGVFIMGKTIE
FHMGGNMELKAENSIILNGSVMVSTTRLPSSSSGDQLGSGDWVRYKLCMCADGTLFKVQVTSQNMGCQISDNPCGNTH*

Gene Symbol:SGCB
Accession:XM_047416074
Location:INTRON

Gene Symbol:SGCB
Accession:XM_047416076
Location:INTRON

Gene Symbol:SGCB
Accession:XM_047416075
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003136645 CLINVAR
MedGen C1858593 CLINVAR
NCBI Gene SGCB CLINVAR
OMIM 600900 CLINVAR
  604286 CLINVAR