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Variant : CV74275 (GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3) Homo sapiens

Symbol: CV74275
Name: GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3
Condition: Nonsyndromic microcephaly [RCV000053532]|See cases [RCV000053532]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCA13   ADCY1   AEBP1   AMPH   ANLN   AOAH   AOAH-IT1   BBS9   BLVRA   BMPER   C7orf25   C7orf57   C7orf65   C7orf69   CAMK2B   CCM2   CCT6A   CDC14C   CDK13   CHCHD2   COA1   COBL   DBNL   DDC   DDC-AS1   DDX56   DPY19L1   EEPD1   EGFR   EGFR-AS1   ELDR   ELMO1   ELMO1-AS1   EPDR1   FIGNL1   GCK   GLI3   GPR141   GRB10   H2AZ2   HECW1   HECW1-IT1   HERPUD2   HUS1   IGFBP1   IGFBP3   IKZF1   INHBA   INHBA-AS1   KIAA0895   LANCL2   LINC00265   LINC00525   LINC00957   LINC01445   LINC01446   LINC01447   LINC01448   LINC01449   LINC01450   LINC01952   LINC02838   LOC401357   LUARIS   MIR1200   MIR3147   MIR3943   MIR4283-1   MIR4649   MIR4657   MIR548N   MIR6837   MIR6838   MPLKIP   MRPL32   MRPS17   MRPS24   MYL7   MYO1G   NACAD   NIPSNAP2   NME8   NPC1L1   NPSR1   NPSR1-AS1   NUDCD3   NUPR2   OGDH   PGAM2   PHKG1   PKD1L1   POLD2   POLM   POM121L12   POU6F2   POU6F2-AS1   POU6F2-AS2   PPIA   PSMA2   PSPH   PURB   RALA   RAMP3   SEC61G   SEPTIN14   SEPTIN7   SEPTIN7-DT   SFRP4   SNHG15   SNORA15   SNORA20B   SNORA22B   SNORA5A   SNORA5B   SNORA5C   SNORA9   SNORD151   SPATA48   SPDYE1   STARD3NL   STK17A   SUGCT   SUMF2   SUN3   TARP   TBRG4   TBX20   TMED4   TNS3   TRG   TRG-AS1   TRGC1   TRGC2   TRGJ1   TRGJ2   TRGJP   TRGJP1   TRGJP2   TRGV2   TRGV3   TRGV4   TRGV5   TRGV8   TRGV9   UBE2D4   UPP1   URGCP   URGCP-MRPS24   VOPP1   VPS41   VSTM2A   VSTM2A-OT1   VWC2   YAE1   YKT6   ZMIZ2   ZNF479   ZNF713   ZNF716   ZPBP  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_33328312)_(62377476_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38733,328,312 - 62,377,476CLINVAR
GRCh37733,367,924 - 61,831,899CLINVAR
Build 36733,334,449 - 61,469,334CLINVAR
Cytogenetic Map77p14.3-q11.21CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8620461
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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