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Variant : CV156606 (GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1) Homo sapiens

Symbol: CV156606
Name: GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1
Condition: See cases [RCV000136092]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCA13   ADCY1   AEBP1   BLVRA   C7orf25   C7orf57   C7orf65   C7orf69   CAMK2B   CCM2   CCT6A   CDC14C   CHCHD2   COA1   COBL   DBNL   DDC   DDC-AS1   DDX56   EGFR   EGFR-AS1   ELDR   FIGNL1   GCK   GLI3   GRB10   H2AZ2   HECW1   HECW1-IT1   HUS1   IGFBP1   IGFBP3   IKZF1   INHBA   INHBA-AS1   LANCL2   LINC00525   LINC00957   LINC01445   LINC01446   LINC01447   LINC01448   LINC01449   LINC01450   LINC01952   LINC02838   LUARIS   MIR3943   MIR4649   MIR4657   MIR6837   MIR6838   MRPL32   MRPS17   MRPS24   MYL7   MYO1G   NACAD   NIPSNAP2   NPC1L1   NUDCD3   OGDH   PGAM2   PHKG1   PKD1L1   POLD2   POLM   POM121L12   PPIA   PSMA2   PSPH   PURB   RAMP3   SEC61G   SEPTIN14   SNHG15   SNORA15   SNORA22B   SNORA5A   SNORA5B   SNORA5C   SNORA9   SNORD151   SPATA48   SPDYE1   STK17A   SUGCT   SUMF2   SUN3   TBRG4   TMED4   TNS3   UBE2D4   UPP1   URGCP   URGCP-MRPS24   VOPP1   VSTM2A   VSTM2A-OT1   VWC2   YKT6   ZMIZ2   ZNF713   ZPBP  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_40534157)_(56107122_?)del
NC_000007.13:g.(?_40573756)_(56174815_?)del
NC_000007.12:g.(?_40540281)_(56142309_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38740,534,157 - 56,107,122CLINVAR
GRCh37740,573,756 - 56,174,815CLINVAR
Build 36740,540,281 - 56,142,309CLINVAR
Cytogenetic Map77p14.1-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483654
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.