RGD:12895047 Rat Genome Database

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Variant: RGD:12895047 -  Homo sapiens

RGD ID: 12895047
RS ID: rs1064794057
ClinVar ID: CV411155
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCAP31  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 152,980,995
GRCh38 X 153,715,540
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005745.8:c.341+2T>G
NM_001139441.1:c.341+2T>G
NG_023231.1:g.14207T>G
NC_000023.11:g.153715540A>C
More... 		09/01/2015 splice donor variant pathogenic|not provided Chromosome Xq28 deletion syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCAP31
Accession:NM_005745
Location:INTRON

Gene Symbol:BCAP31
Accession:NM_001139441
Location:INTRON

Gene Symbol:BCAP31
Accession:NM_001139457
Location:INTRON

Gene Symbol:BCAP31
Accession:NM_001256447
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000485079 CLINVAR
  RCV000509475 CLINVAR
dbSNP (RS) rs1064794057 CLINVAR
MedGen C3806634 CLINVAR
  CN517202 CLINVAR
NCBI Gene BCAP31 CLINVAR
OMIM 300398 CLINVAR
  300475 CLINVAR