RGD:13517949 Rat Genome Database

Variant: RGD:13517949 - Homo sapiens

RGD ID:

13517949

RS ID:

rs1555787599

ClinVar ID:

CV424441

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RBCK1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	20	408,039
GRCh38	20	427,395

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001310885.1:p.Cys201Phe NP_001310887.1:p.Cys201Phe NC_000020.11:g.427395G>T NC_000020.10:g.408039G>T More...	03/03/2016	missense variant	pathogenic	Amylopectinosis; Andersen disease; Brancher deficiency; Cirrhosis, familial, with deposition of abnormal glycogen; GBE1 DEFICIENCY; Glycogen branching enzyme deficiency; Glycogen storage disease due to glycogen branching enzyme deficiency; Glycogen storage disease type 4; Glycogenosis 4; GLYCOGENOSIS IV; GSD 4; GSD IV; Polyglucosan body myopathy 1 with or without immunodeficiency; Polyglucosan body myopathy type 1; POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY

Disease Annotations Click to see Annotation Detail View

glycogen storage disease IV (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RBCK1
Accession:	NM_001323956
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	201

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGCGRMGTVPTSICCQPATPPSTLRSCSGSGSCGCWKIWASRTSRCSRGALWSQAPQSPGSPRNPDGGSQMQCLSPHRWA GSAPGAPSSTSPRGLAVRCAAGRAPRPTRSPPHTSPTRRSERAWRARRRRCVSTSRECLQGTIRNSQEAEVSCPFIDNTY SCSGKLLEREIKALLTPEDYQRFLDLGISIAENRSAFSYHFKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMN CKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRCPQCQIVVQKKDGCDWIRCTVCHTEICWVTKGPRWGPGGPGDTS GGCRCRVNGIPCHPSCQNCH*

Gene Symbol:	RBCK1
Accession:	XM_011529138
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	412

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDEKTKKAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKPEVSPTQDIRSRGEKTEEVGEVREVPDHGGPRVL PRVDSKSSVEPLEGPNWLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGV RQNGDSAYLYLLSARNTSLNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQC PGCTFINKPTRPGCEMCCRARPEAYQVPASYQPDEEERARLAGEEEALRQYQQRKQQQQEGNYLQHVQLDQRSLVLNTEP AECPVCYSVLAPGEAVVLRECLHTFCRECLQGTIRNSQEAEVSCPFIDNTYSCSGKLLEREIKALLTPEDYQRFLDLGIS IAENRSAFSYHFKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVML QQGEAMRCPQCQIVVQKKDGCDWIRCTVCHTEICWVTKGPRWGPGGPGDTSGGCRCRVNGIPCHPSCQNCH*

Gene Symbol:	RBCK1
Accession:	NM_001410770
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	388

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDEKTKKAPENKPCANWLLLYWLSAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKPEVSPTQDIRLWVSVED AQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTSLNPQEL QRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEA YQVPASYQPDEEERARLAGEEEALRQYQQRKQQQQEGNYLQHVQLDQRSLVLNTEPAECPVCYSVLAPGEAVVLRECLHT FCRECLQGTIRNSQEAEVSCPFIDNTYSCSGKLLEREIKALLTPEDYQRFLDLGISIAENRSAFSYHFKTPDCKGWCFFE DDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRCPQCQIVVQKKDGCDWI RCTVCHTEICWVTKGPRWGPGGPGDTSGGCRCRVNGIPCHPSCQNCH*

Gene Symbol:	RBCK1
Accession:	NM_006462
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	329

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTATPDGREDQERLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQN GDSAYLYLLSARNTSLNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGC TFINKPTRPGCEMCCRARPEAYQVPASYQPDEEERARLAGEEEALRQYQQRKQQQQEGNYLQHVQLDQRSLVLNTEPAEC PVCYSVLAPGEAVVLRECLHTFCRECLQGTIRNSQEAEVSCPFIDNTYSCSGKLLEREIKALLTPEDYQRFLDLGISIAE NRSAFSYHFKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQG EAMRCPQCQIVVQKKDGCDWIRCTVCHTEICWVTKGPRWGPGGPGDTSGGCRCRVNGIPCHPSCQNCH*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	388

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDEKTKKAPENKPCANWLLLYWLSAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKPEVSPTQDIRLWVSVED AQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTSLNPQEL QRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEA YQVPASYQPDEEERARLAGEEEALRQYQQRKQQQQEGNYLQHVQLDQRSLVLNTEPAECPVCYSVLAPGEAVVLRECLHT FCRECLQGTIRNSQEAEVSCPFIDNTYSCSGKLLEREIKALLTPEDYQRFLDLGISIAENRSAFSYHFKTPDCKGWCFFE DDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRCPQCQIVVQKKDGCDWI RCTVCHTEICWVTKGPRWGPGGPGDTSGGCRCRVNGIPCHPSCQNCH*

Gene Symbol:	RBCK1
Accession:	NM_001323958
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	201

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGCGRMGTVPTSICCQPATPPSTLRSCSGSGSCGCWKIWASRTSRCSRGALWSQAPQSPGSPRNPDGGSQMQCLSPHRWA GSAPGAPSSTSPRGLAVRCAAGRAPRPTRSPPHTSPTRRSERAWRARRRRCVSTSRECLQGTIRNSQEAEVSCPFIDNTY SCSGKLLEREIKALLTPEDYQRFLDLGISIAENRSAFSYHFKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMN CKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRCPQCQIVVQKKDGCDWIRCTVCHTEICWVTKGPRWGPGGPGDTS GGCRCRVNGIPCHPSCQNCH*

Gene Symbol:	RBCK1
Accession:	NM_031229
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	371

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDEKTKKAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKPEVSPTQDIRLWVSVEDAQMHTVTIWLTVRPDMT VASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTSLNPQELQRERQLRMLEDLGFKDL TLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEAYQVPASYQPDEEERARL AGEEEALRQYQQRKQQQQEGNYLQHVQLDQRSLVLNTEPAECPVCYSVLAPGEAVVLRECLHTFCRECLQGTIRNSQEAE VSCPFIDNTYSCSGKLLEREIKALLTPEDYQRFLDLGISIAENRSAFSYHFKTPDCKGWCFFEDDVNEFTCPVCFHVNCL LCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRCPQCQIVVQKKDGCDWIRCTVCHTEICWVTKGPR WGPGGPGDTSGGCRCRVNGIPCHPSCQNCH*

Gene Symbol:	RBCK1
Accession:	XM_011529137
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	429

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDEKTKKAPENKPCANWLLLYWLSAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKPEVSPTQDIRSRGEKTE EVGEVREVPDHGGPRVLPRVDSKSSVEPLEGPNWLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWV IGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTSLNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPG RGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEAYQVPASYQPDEEERARLAGEEEALRQYQQRKQQQQEGNY LQHVQLDQRSLVLNTEPAECPVCYSVLAPGEAVVLRECLHTFCRECLQGTIRNSQEAEVSCPFIDNTYSCSGKLLEREIK ALLTPEDYQRFLDLGISIAENRSAFSYHFKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRA QNDVAARQTTEMLKVMLQQGEAMRCPQCQIVVQKKDGCDWIRCTVCHTEICWVTKGPRWGPGGPGDTSGGCRCRVNGIPC HPSCQNCH*

Gene Symbol:	RBCK1
Accession:	XM_011529139
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	429

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDEKTKKAPENKPCANWLLLYWLSAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKPEVSPTQDIRSRGEKTE EVGEVREVPDHGGPRVLPRVDSKSSVEPLEGPNWLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWV IGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTSLNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPG RGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEAYQVPASYQPDEEERARLAGEEEALRQYQQRKQQQQEGNY LQHVQLDQRSLVLNTEPAECPVCYSVLAPGEAVVLRECLHTFCRECLQGTIRNSQEAEVSCPFIDNTYSCSGKLLEREIK ALLTPEDYQRFLDLGISIAENRSAFSYHFKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRA QNDVAARQTTEMLKGQHLPHSR*

Gene Symbol:	RBCK1
Accession:	NR_136659
Location:	EXON;NON-CODING

Gene Symbol:	RBCK1
Accession:	XM_011529140
Location:	INTRON

Gene Symbol:	RBCK1
Accession:	XM_047439834
Location:	INTRON

Gene Symbol:	RBCK1
Accession:	XM_047439835
Location:	INTRON

Gene Symbol:	RBCK1
Accession:	NM_001323960
Location:	INTRON

Gene Symbol:	RBCK1
Accession:	XM_047439833
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000590988	CLINVAR
dbSNP (RS)	rs1555787599	CLINVAR
MedGen	C0017923	CLINVAR
NCBI Gene	RBCK1	CLINVAR
OMIM	232500	CLINVAR
	610924	CLINVAR
	615895	CLINVAR
SNOMED CT	11179002	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:13517949 - Homo sapiens

Imported Disease Annotations - ClinVar