GRCh38/hg38 Xq28(chrX:152371062-152569688)x0Rat Genome Database

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Variant : CV157340 (GRCh38/hg38 Xq28(chrX:152371062-152569688)x0) Homo sapiens

Symbol: CV157340
Name: GRCh38/hg38 Xq28(chrX:152371062-152569688)x0
RGD ID: 9484317
Condition: See cases [RCV000136756]
Clinical Significance: pathogenic
Last Evaluated: 01/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: GABRA3   MIR105-1   MIR105-2   MIR767  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_152371062)_(152569688_?)del
NC_000023.10:g.(?_151539534)_(151734489_?)del
NC_000023.9:g.(?_151290190)_(151488816_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X152,371,062 - 152,569,688CLINVAR
GRCh37X151,539,534 - 151,734,489 (+)CLINVAR
Build 36X151,290,190 - 151,488,816CLINVAR
Cytogenetic MapXXq28CLINVAR



Additional References at PubMed
PMID:20466091  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000136756 CLINVAR
NCBI Gene GABRA3 CLINVAR
  MIR105-1 CLINVAR
  MIR105-2 CLINVAR
  MIR767 CLINVAR
OMIM 300811 CLINVAR
  300812 CLINVAR
  305660 CLINVAR