RGD:41407024 Rat Genome Database

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Variant: RGD:41407024 -  Homo sapiens

RGD ID: 41407024
RS ID: rs373785384
ClinVar ID: CV982845
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SGCG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 23,898,539
GRCh38 13 23,324,400
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000231.3:c.735C>T
LRG_207:g.148480C>T
NP_001365173.1:p.Pro263=
NM_001378245.1:c.735C>T
More... 		10/31/2019 synonymous variant likely benign 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_001378246
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_001378245
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_001378244
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 263
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGNAAAVCAPGLQEVQQMVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMW
FSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQI
NSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALS
QMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:XM_047430542
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGNAAAVCAPGLQEVQQAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLK
VGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPR
GVHIQAHAGKIEALSQMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHN
HICL*

Gene Symbol:SGCG
Accession:NM_000231
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*
Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001289210 CLINVAR
  RCV001431895 CLINVAR
dbSNP (RS) rs373785384 CLINVAR
MedGen C0410173 CLINVAR
  C3661900 CLINVAR
NCBI Gene SGCG CLINVAR
OMIM 253700 CLINVAR
  608896 CLINVAR