RGD:21068022 Rat Genome Database

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Variant: RGD:21068022 -  Homo sapiens

RGD ID: 21068022
RS ID: rs1590881708
ClinVar ID: CV793393
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSCL2  HNRNPUL2-BSCL2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 62,470,004
GRCh38 11 62,702,532
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001122955.3:c.422C>T
NM_001122955.4:c.422C>T
NM_001386027.1:c.422C>T
NM_001386028.1:c.422C>T
More... 		09/21/2018 missense variant uncertain significance Charcot-Marie-Tooth, Type 2; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BSCL2
Accession:NM_032667
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSYTTS
LCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLD
TLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVA
SNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGT
EGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*

Gene Symbol:BSCL2
Accession:NM_001386028
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV
GQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSYTTSLCSFPVANVSLTKGGR
DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK
QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ
WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLS
GEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*

Gene Symbol:BSCL2
Accession:NM_001130702
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSYTTS
LCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLD
TLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRLTSEKETIPGRKSNEG
SLLISQGLKARRSQLRNQMLQRMVRALKIPQGQRVSCPRRRNQISSP*

Gene Symbol:BSCL2
Accession:NM_001122955
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV
GQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSYTTSLCSFPVANVSLTKGGR
DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK
QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ
WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLS
GEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*

Gene Symbol:BSCL2
Accession:NM_001386027
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEV
GQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSYTTSLCSFPVANVSLTKGGR
DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK
QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ
WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGAGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQP
LSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*

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

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000993055 CLINVAR
  RCV001858766 CLINVAR
dbSNP (RS) rs1590881708 CLINVAR
MedGen C0270914 CLINVAR
  C3661900 CLINVAR
NCBI Gene BSCL2 CLINVAR
  HNRNPUL2-BSCL2 CLINVAR
OMIM 606158 CLINVAR