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Variant : CV535644 (Single allele) Homo sapiens

Symbol: CV535644
Name: Single allele
RGD ID: 14350993
Condition: Schizophrenia [RCV000754364]
Clinical Significance: likely pathogenic
Last Evaluated: 03/20/2018
Review Status: criteria provided, single submitter
Related Genes: ALG13   AMMECR1   AMOT   CAPN6   CHRDL1   DCX   GNG5P2   HTR2C   IL13RA2   LHFPL1   LOC101928437   LOC113845785   LRCH2   MIR1264   MIR1298   MIR1911   MIR1912   MIR3978   MIR4329   MIR448   MIR764   PAK3   RBMXL3   RTL4   RTL9   SERTM2   SNORA35   SNORA35B   SNORD96B   TMEM164   TRPC5   TRPC5OS   XACT  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh38X110,074,915 - 115,196,481CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER



Disease Annotations     Click to see Annotation Detail View
schizophrenia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
Additional References at PubMed
PMID:21681106   PMID:30208311  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000754364 CLINVAR
MedGen C0036341 CLINVAR
NCBI Gene 101928437 CLINVAR
  113845785 CLINVAR
  ALG13 CLINVAR
  AMMECR1 CLINVAR
  AMOT CLINVAR
  CAPN6 CLINVAR
  CHRDL1 CLINVAR
  DCX CLINVAR
  GNG5P2 CLINVAR
  HTR2C CLINVAR
  IL13RA2 CLINVAR
  LHFPL1 CLINVAR
  LRCH2 CLINVAR
  MIR1264 CLINVAR
  MIR1298 CLINVAR
  MIR1911 CLINVAR
  MIR1912 CLINVAR
  MIR3978 CLINVAR
  MIR4329 CLINVAR
  MIR448 CLINVAR
  MIR764 CLINVAR
  PAK3 CLINVAR
  RBMXL3 CLINVAR
  RTL4 CLINVAR
  RTL9 CLINVAR
  SERTM2 CLINVAR
  SNORA35 CLINVAR
  SNORA35B CLINVAR
  SNORD96B CLINVAR
  TMEM164 CLINVAR
  TRPC5 CLINVAR
  TRPC5OS CLINVAR
  XACT CLINVAR
OMIM 181500 CLINVAR
  300121 CLINVAR
  300130 CLINVAR
  300142 CLINVAR
  300146 CLINVAR
  300195 CLINVAR
  300334 CLINVAR
  300350 CLINVAR
  300410 CLINVAR
  300566 CLINVAR
  300686 CLINVAR
  300776 CLINVAR
  300901 CLINVAR
  300965 CLINVAR
  312861 CLINVAR
SNOMED CT 58214004 CLINVAR