RGD:11604949 Rat Genome Database

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Variant: RGD:11604949 -  Homo sapiens

RGD ID: 11604949
RS ID: rs201493373
ClinVar ID: CV314470
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSCL2  HNRNPUL2-BSCL2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 62,473,053
GRCh38 11 62,705,581
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032667.6:c.-69C>T
NG_008461.1:g.8994C>T
NC_000011.10:g.62705581G>A
NC_000011.9:g.62473053G>A
More... 		06/01/2019 5 prime utr variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Berardinelli syndrome; BRUNZELL SYNDROME, BSCL2-RELATED; DHMN VA; Distal Spinal Muscular Atrophy V; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5; none provided; Seip syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BSCL2
Accession:NM_001130702
Location:5UTRS;EXON

Gene Symbol:BSCL2
Accession:NM_032667
Location:5UTRS;EXON

Gene Symbol:BSCL2
Accession:NM_001122955
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWSPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV
GQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGR
DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK
QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ
WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLS
GEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*

Gene Symbol:BSCL2
Accession:NM_001386028
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWSPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV
GQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGR
DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK
QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ
WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLS
GEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*

Gene Symbol:BSCL2
Accession:NM_001386027
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWSPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV
GQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGR
DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK
QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ
WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGAGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQP
LSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*

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

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000314309 CLINVAR
  RCV000393471 CLINVAR
  RCV000517690 CLINVAR
  RCV000710229 CLINVAR
dbSNP (RS) rs201493373 CLINVAR
MedGen C1720863 CLINVAR
  C3661900 CLINVAR
  C5399969 CLINVAR
  CN169374 CLINVAR
NCBI Gene BSCL2 CLINVAR
  HNRNPUL2-BSCL2 CLINVAR
OMIM 269700 CLINVAR
  600794 CLINVAR
  606158 CLINVAR