RGD:12885140 Rat Genome Database

Variant: RGD:12885140 - Homo sapiens

RGD ID:

12885140

RS ID:

rs149907021

ClinVar ID:

CV398262

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

BSCL2 HNRNPUL2-BSCL2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	62,458,267
GRCh38	11	62,690,795

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_001130702.2:c.811C>T NG_008461.1:g.23780C>T NC_000011.10:g.62690795G>A NC_000011.9:g.62458267G>A More...	07/28/2021	missense variant	uncertain significance	AllHighlyPenetrant; 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; Familial spastic paraparesis; 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

Charcot-Marie-Tooth disease type 2 (IAGP)

congenital generalized lipodystrophy type 2 (IAGP)

genetic disease (IAGP)

hereditary spastic paraplegia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	BSCL2
Accession:	NM_001130702
Location:	EXON
Amino Acid Prediction:	Q to K (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTS LCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLD TLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRLTSEKETIPGRKSNEG SLLISQGLKARRSQLRNQMLQRMVRALKIPKGQRVSCPRRRNQISSP*

Gene Symbol:	BSCL2
Accession:	NM_032667
Location:	EXON
Amino Acid Prediction:	S to * (nonsynonymous)
Amino Acid Position:	318

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTS LCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLD TLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVA SNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPGT EGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS

Gene Symbol:	BSCL2
Accession:	NM_001386027
Location:	EXON
Amino Acid Prediction:	S to * (nonsynonymous)
Amino Acid Position:	384

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV GQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGR DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGAGPEGQEESTPQSDVTEDGESPEDPGTEGQLSEEEKPDQQP LSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS

Gene Symbol:	BSCL2
Accession:	NM_001122955
Location:	EXON
Amino Acid Prediction:	S to * (nonsynonymous)
Amino Acid Position:	382

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV GQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGR DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPGTEGQLSEEEKPDQQPLS GEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS

Gene Symbol:	BSCL2
Accession:	NM_001386028
Location:	EXON
Amino Acid Prediction:	S to * (nonsynonymous)
Amino Acid Position:	382

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV GQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGR DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPGTEGQLSEEEKPDQQPLS GEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS

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	RCV000464780	CLINVAR
	RCV001091623	CLINVAR
	RCV001848815	CLINVAR
	RCV002374810	CLINVAR
	RCV002489080	CLINVAR
	RCV003317226	CLINVAR
dbSNP (RS)	rs149907021	CLINVAR
MedGen	C0037773	CLINVAR
	C0270914	CLINVAR
	C0950123	CLINVAR
	C1720863	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	BSCL2	CLINVAR
	HNRNPUL2-BSCL2	CLINVAR
OMIM	269700	CLINVAR
	270685	CLINVAR
	606158	CLINVAR
	615924	CLINVAR
	619112	CLINVAR
SNOMED CT	39912006	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)

Create Name:

Description:

Send us a Message

Variant: RGD:12885140 - Homo sapiens

Imported Disease Annotations - ClinVar