GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1Rat Genome Database

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Variant : CV73899 (GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1) Homo sapiens

Symbol: CV73899
Name: GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1
RGD ID: 8620077
Condition: See cases [RCV000053132]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADCY1   AEBP1   BLVRA   C7orf25   CAMK2B   CCM2   CDK13   CDK13-DT   COA1   DBNL   DDX56   GCK   GLI3   H2AZ2   HECW1   HECW1-IT1   INHBA   INHBA-AS1   LINC00957   LINC01448   LINC01449   LINC01450   LINC01952   LOC108192210   LOC110120590   LOC110121030   LOC110121152   LOC111591501   LOC113748393   LOC114004408   LOC116183089   LUARIS   MIR3943   MIR4649   MIR4657   MIR6837   MIR6838   MPLKIP   MRPL32   MRPS24   MYL7   MYO1G   NACAD   NPC1L1   NUDCD3   OGDH   PGAM2   POLD2   POLM   PPIA   PSMA2   PURB   RAMP3   SNHG15   SNORA5A   SNORA5B   SNORA5C   SNORA9   SPDYE1   STK17A   SUGCT   SUGCT-AS1   TBRG4   TMED4   UBE2D4   URGCP   URGCP-MRPS24   YKT6   ZMIZ2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_39814159)_(45749735_?)del
NC_000007.13:g.(?_39853758)_(45789334_?)del
NC_000007.12:g.(?_39820283)_(45755859_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38739,814,159 - 45,749,735CLINVAR
GRCh37739,853,758 - 45,789,334CLINVAR
Build 36739,820,283 - 45,755,859CLINVAR
Cytogenetic Map77p14.1-12.3CLINVAR



Additional References at PubMed
PMID:21844811  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000053132 CLINVAR
NCBI Gene 100127950 CLINVAR
  100128364 CLINVAR
  100506895 CLINVAR
  108192210 CLINVAR
  110120590 CLINVAR
  110121030 CLINVAR
  110121152 CLINVAR
  111591501 CLINVAR
  112267983 CLINVAR
  113748393 CLINVAR
  114004408 CLINVAR
  116183089 CLINVAR
  ADCY1 CLINVAR
  AEBP1 CLINVAR
  BLVRA CLINVAR
  C7orf25 CLINVAR
  CAMK2B CLINVAR
  CCM2 CLINVAR
  CDK13 CLINVAR
  COA1 CLINVAR
  DBNL CLINVAR
  DDX56 CLINVAR
  GCK CLINVAR
  GLI3 CLINVAR
  H2AFV CLINVAR
  HECW1 CLINVAR
  INHBA CLINVAR
  INHBA-AS1 CLINVAR
  LINC00957 CLINVAR
  LINC01448 CLINVAR
  LINC01449 CLINVAR
  LINC01450 CLINVAR
  LINC01952 CLINVAR
  MIR3943 CLINVAR
  MIR4649 CLINVAR
  MIR4657 CLINVAR
  MIR6837 CLINVAR
  MIR6838 CLINVAR
  MPLKIP CLINVAR
  MRPL32 CLINVAR
  MRPS24 CLINVAR
  MYL7 CLINVAR
  MYO1G CLINVAR
  NACAD CLINVAR
  NPC1L1 CLINVAR
  NUDCD3 CLINVAR
  OGDH CLINVAR
  PGAM2 CLINVAR
  POLD2 CLINVAR
  POLM CLINVAR
  PPIA CLINVAR
  PSMA2 CLINVAR
  PURB CLINVAR
  RAMP3 CLINVAR
  SNHG15 CLINVAR
  SNORA5A CLINVAR
  SNORA5B CLINVAR
  SNORA5C CLINVAR
  SNORA9 CLINVAR
  SPDYE1 CLINVAR
  STK17A CLINVAR
  SUGCT CLINVAR
  SUGCT-AS1 CLINVAR
  TBRG4 CLINVAR
  TMED4 CLINVAR
  UBE2D4 CLINVAR
  URGCP CLINVAR
  URGCP-MRPS24 CLINVAR
  YKT6 CLINVAR
  ZMIZ2 CLINVAR
OMIM 103072 CLINVAR
  109750 CLINVAR
  123840 CLINVAR
  138079 CLINVAR
  147290 CLINVAR
  165240 CLINVAR
  176842 CLINVAR
  600642 CLINVAR
  600815 CLINVAR
  602981 CLINVAR
  603309 CLINVAR
  604726 CLINVAR
  605155 CLINVAR
  606209 CLINVAR
  606344 CLINVAR
  607707 CLINVAR
  607929 CLINVAR
  608010 CLINVAR
  608023 CLINVAR
  608887 CLINVAR
  609187 CLINVAR
  609188 CLINVAR
  610106 CLINVAR
  610296 CLINVAR
  610337 CLINVAR
  610384 CLINVAR
  611196 CLINVAR
  611325 CLINVAR
  611335 CLINVAR
  611839 CLINVAR
  611986 CLINVAR
  612038 CLINVAR
  612931 CLINVAR
  613022 CLINVAR
  613993 CLINVAR
  614769 CLINVAR
  617623 CLINVAR
  618172 CLINVAR