RGD:126746219 Rat Genome Database

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Variant: RGD:126746219 -  Homo sapiens

RGD ID: 126746219
RS ID: rs778119056
ClinVar ID: CV1010760
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC107984585  SGCG  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 23,894,820
GRCh38 13 23,320,681
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.623G>T
NP_000222.2:p.Gly208Val
NP_001365174.1:p.Gly208Val
NP_001365175.1:p.Gly208Val
More... 		09/12/2022 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; 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:XM_047430542
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGNAAAVCAPGLQEVQQAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLK
VGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPR
VVHIQAHAGKIEALSQMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHN
HICL*

Gene Symbol:SGCG
Accession:NM_001378245
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRVVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_001378244
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGNAAAVCAPGLQEVQQMVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMW
FSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQI
NSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRVVHIQAHAGKIEALS
QMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_001378246
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRVVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_000231
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRVVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:LOC107984585
Accession:XR_001749787
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001315172 CLINVAR
  RCV002543666 CLINVAR
dbSNP (RS) rs778119056 CLINVAR
MedGen C0410173 CLINVAR
  C0950123 CLINVAR
NCBI Gene SGCG CLINVAR
OMIM 253700 CLINVAR
  608896 CLINVAR