RGD:12741940 Rat Genome Database

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Variant: RGD:12741940 -  Homo sapiens

RGD ID: 12741940
RS ID: rs1057518721
ClinVar ID: CV361238
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCAP31  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 152,989,013
GRCh38 X 153,723,558
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001139441.1:c.-44-270C>A
NM_001256447.2:c.-44-270C>A
NG_009022.2:g.3691G>T
NM_001139457.2:c.107C>A
More... 		01/21/2021 intron variant pathogenic|no classifications from unflagged records infancy <1 / 1 000 000 Chromosome Xq28 deletion syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCAP31
Accession:NM_001256447
Location:5UTRS;INTRON

Gene Symbol:BCAP31
Accession:NM_001139441
Location:5UTRS;INTRON

Gene Symbol:BCAP31
Accession:NM_005745
Location:5UTRS;INTRON

Gene Symbol:BCAP31
Accession:NM_001139457
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAEASSSWCPGTALPEERLSVKRASEISGFLGQG*SGEAALDVLTHVLEGAGNKLTSSCGKPSSNRMSLQWTAVATFLY
AEVFVVLLLCIPFISPKRWQKIFKSRLVELLVSYGNTFFVVLIVILVLLVIDAVREIRKYDDVTEKVNLQNNPGAMEHFH
MKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQATLLASNEAFKKQAESASEAAKKYMEENDQLKKGAAVDGGKLDVGNA
EVKLEEENRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGPMDKKEE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000415452 CLINVAR
dbSNP (RS) rs1057518721 CLINVAR
MedGen C3806634 CLINVAR
NCBI Gene BCAP31 CLINVAR
OMIM 300398 CLINVAR
  300475 CLINVAR