RGD:13837331 Rat Genome Database

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Variant: RGD:13837331 -  Homo sapiens

RGD ID: 13837331
RS ID: rs761027747
ClinVar ID: CV588620
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SGCG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 23,777,867
GRCh38 13 23,203,728
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000222.2:p.Gly12Ser
NP_001365174.1:p.Gly12Ser
NP_001365175.1:p.Gly12Ser
NP_001365173.1:p.Gly30Ser
More... 		06/20/2018 missense variant uncertain significance Adhalin deficiency, secondary; Duchenne-like muscular dystrophy, autosomal recessive, type 1; Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Limb-girdle muscular dystrophy, type 2C; Maghrebian myopathy; Muscular dystrophy, Duchenne-like; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; none provided; Severe childhood autosomal recessive muscular dystrophy, North African type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SGCG
Accession:NM_001378244
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGNAAAVCAPGLQEVQQMVREQYTTATESICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMW
FSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQI
NSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALS
QMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_001378246
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATESICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_000231
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATESICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_001378245
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATESICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:XM_047430542
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000733723 CLINVAR
  RCV003141730 CLINVAR
dbSNP (RS) rs761027747 CLINVAR
MedGen C0410173 CLINVAR
  C3661900 CLINVAR
NCBI Gene SGCG CLINVAR
OMIM 253700 CLINVAR
  608896 CLINVAR