RGD:11523107 Rat Genome Database

Variant: RGD:11523107 - Homo sapiens

RGD ID:

11523107

RS ID:

rs147314661

ClinVar ID:

CV244667

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

BSCL2 HNRNPUL2-BSCL2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	62,472,878
GRCh38	11	62,705,406

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
NM_001122955.4:c.299G>T NM_001386027.1:c.299G>T NP_001372956.1:p.Cys100Phe NP_001372957.1:p.Cys100Phe More...	02/12/2021	missense variant	uncertain significance	Autosomal dominant spastic paraplegia type 17; Berardinelli syndrome; BRUNZELL SYNDROME, BSCL2-RELATED; Charcot-Marie-Tooth, Type 2; DHMN VC; ENCEPHALOPATHY, PROGRESSIVE, WITH LIPODYSTROPHY; Encephalopathy, progressive, with or without lipodystrophy; Hereditary spastic paraplegia 17; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VC; Neuronopathy, distal hereditary motor, type 5C; NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VC; none provided; Seip syndrome; Severe neurodegenerative syndrome with lipodystrophy; Silver spastic paraplegia syndrome; Spastic paraplegia 17; Spastic paraplegia with amyotrophy of hands and feet; SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VC

Disease Annotations Click to see Annotation Detail View

autosomal dominant distal hereditary motor neuronopathy 13 (IAGP)

Charcot-Marie-Tooth disease type 2 (IAGP)

congenital generalized lipodystrophy (IAGP)

congenital generalized lipodystrophy type 2 (IAGP)

genetic disease (IAGP)

hereditary spastic paraplegia 17 (IAGP)

Progressive Encephalopathy, with or without Lipodystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	BSCL2
Accession:	NM_001130702
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFYTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTS LCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLD TLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRLTSEKETIPGRKSNEG SLLISQGLKARRSQLRNQMLQRMVRALKIPQGQRVSCPRRRNQISSP*

Gene Symbol:	BSCL2
Accession:	NM_032667
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFYTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTS LCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLD TLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVA SNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGT EGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*

Gene Symbol:	BSCL2
Accession:	NM_001122955
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	100

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV GQVLAGRARRLLLQFGVLFYTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGR DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLS GEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*

Gene Symbol:	BSCL2
Accession:	NM_001386028
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	100

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV GQVLAGRARRLLLQFGVLFYTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGR DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLS GEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*

Gene Symbol:	BSCL2
Accession:	NM_001386027
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	100

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV GQVLAGRARRLLLQFGVLFYTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGR DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGAGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQP LSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*

Gene Symbol:	HNRNPUL2-BSCL2
Accession:	NR_037946
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000235352	CLINVAR
	RCV000543721	CLINVAR
	RCV002418047	CLINVAR
	RCV002479947	CLINVAR
	RCV003930012	CLINVAR
dbSNP (RS)	rs147314661	CLINVAR
MedGen	C0270914	CLINVAR
	C0950123	CLINVAR
	C1720863	CLINVAR
	C3661900	CLINVAR
NCBI Gene	BSCL2	CLINVAR
	HNRNPUL2-BSCL2	CLINVAR
OMIM	269700	CLINVAR
	270685	CLINVAR
	606158	CLINVAR
	615924	CLINVAR
	619112	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:11523107 - Homo sapiens

Imported Disease Annotations - ClinVar