RGD:14708602 Rat Genome Database

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Variant: RGD:14708602 -  Homo sapiens

RGD ID: 14708602
RS ID: rs201329880
ClinVar ID: CV641585
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SGCG  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 23,853,567
GRCh38 13 23,279,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000013.11:g.23279428C>A
NC_000013.10:g.23853567C>A
LRG_207p1:p.Thr152Asn
NP_000222.1:p.Thr152Asn
More...
10/25/2018 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; 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_000231
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFNVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_001378244
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGNAAAVCAPGLQEVQQMVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMW
FSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQI
NSNDGKPLFNVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALS
QMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_001378245
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFNVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:NM_001378246
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRL
EGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFNVDEKEVVV
GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL*

Gene Symbol:SGCG
Accession:XM_047430542
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGNAAAVCAPGLQEVQQAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLK
VGPKMVEVQNQQFQINSNDGKPLFNVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPR
GVHIQAHAGKIEALSQMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHN
HICL*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000792648 CLINVAR
dbSNP (RS) rs201329880 CLINVAR
MedGen C0410173 CLINVAR
NCBI Gene SGCG CLINVAR
OMIM 253700 CLINVAR
  608896 CLINVAR