RGD:13621097 Rat Genome Database

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Variant: RGD:13621097 -  Homo sapiens

RGD ID: 13621097
RS ID: rs191040430
ClinVar ID: CV527490
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SGCG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 23,824,817
GRCh38 13 23,250,678
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_207t1:c.346C>T
LRG_207:g.74758C>T
NG_008759.1:g.74758C>T
NC_000013.11:g.23250678C>T
More... 		01/23/2019 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:NM_001378245
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNACNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_001378244
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGNAAAVCAPGLQEVQQMVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMW
FSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNACNSEGEVTGRLKVGPKMVEVQNQQFQI
NSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALS
QMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:XM_047430542
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGNAAAVCAPGLQEVQQAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNACNSEGEVTGRLK
VGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPR
GVHIQAHAGKIEALSQMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHN
HICL*

Gene Symbol:SGCG
Accession:NM_000231
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNACNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_001378246
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNACNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000636849 CLINVAR
dbSNP (RS) rs191040430 CLINVAR
MedGen C0410173 CLINVAR
NCBI Gene SGCG CLINVAR
OMIM 253700 CLINVAR
  608896 CLINVAR