RGD:8573588 Rat Genome Database

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Variant: RGD:8573588 -  Homo sapiens

RGD ID: 8573588
RS ID: rs397515620
ClinVar ID: CV79337
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCAP31  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 152,986,423
GRCh38 X 153,720,968
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.97C>T
NG_023231.1:g.8779C>T
NC_000023.11:g.153720968G>A
NC_000023.10:g.152986423G>A
More... 		10/18/2013 nonsense pathogenic neonatal/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_001139457
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAEASSSWCPGTALPEERLSVKRASEISGFLGQGSSGEAALDVLTHVLEGAGNKLTSSCGKPSSNRMSLQWTAVATFLY
AEVFVVLLLCIPFISPKRW*KIFKSRLVELLVSYGNTFFVVLIVILVLLVIDAVREIRKYDDVTEKVNLQNNPGAMEHFH
MKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQATLLASNEAFKKQAESASEAAKKYMEENDQLKKGAAVDGGKLDVGNA
EVKLEEENRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGPMDKKEE*

Gene Symbol:BCAP31
Accession:NM_001139441
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLQWTAVATFLYAEVFVVLLLCIPFISPKRW*KIFKSRLVELLVSYGNTFFVVLIVILVLLVIDAVREIRKYDDVTEKV
NLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQATLLASNEAFKKQAESASEAAKKYMEENDQLKKG
AAVDGGKLDVGNAEVKLEEENRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGP
MDKKEE*

Gene Symbol:BCAP31
Accession:NM_005745
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLQWTAVATFLYAEVFVVLLLCIPFISPKRW*KIFKSRLVELLVSYGNTFFVVLIVILVLLVIDAVREIRKYDDVTEKV
NLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQATLLASNEAFKKQAESASEAAKKYMEENDQLKKG
AAVDGGKLDVGNAEVKLEEENRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGP
MDKKEE*

Gene Symbol:BCAP31
Accession:NM_001256447
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLQWTAVATFLYAEVFVVLLLCIPFISPKRW*KIFKSRLVELLVSYGNTFFVVLIVILVLLVIDAVREIRKYDDVTEKV
NLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQATLLASNEAFKKQAESASEAAKKYMEENDQLKKG
AAVDGGKLDVGNAEVKLEEENRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGP
MDKKEE*
Variant Samples
Additional References at PubMed
PMID:24011989  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000059316 CLINVAR
dbSNP (RS) rs397515620 CLINVAR
MedGen C3806634 CLINVAR
NCBI Gene BCAP31 CLINVAR
OMIM 300398 CLINVAR
  300475 CLINVAR
OMIM Allele 300398.0003 CLINVAR