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Variant : CV74277 (GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3) Homo sapiens

Symbol: CV74277
Name: GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053534]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053534]|See cases [RCV000053534]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ASL   CCT6A   CHCHD2   CICP24   CRCP   EGFR   EGFR-AS1   ELDR   ERV3-1   GUSB   KCTD7   LANCL2   LINC00174   LINC01005   LINC01372   LINC01445   LINC01446   LINC02604   LOC100287704   LOC401357   LOC441242   MIR3147   MIR4283-1   MIR4283-2   MIR4650-1   MIR6839   MRPS17   NIPSNAP2   NUPR2   PHKG1   PSPH   RABGEF1   SBDS   SEC61G   SEPTIN14   SNORA15   SNORA15B-1   SNORA15B-2   SNORA22   SNORA22B   SNORA22C   SUMF2   TMEM248   TPST1   TYW1   VKORC1L1   VOPP1   VSTM2A   VSTM2A-OT1   ZNF107   ZNF117   ZNF138   ZNF273   ZNF479   ZNF679   ZNF680   ZNF713   ZNF716   ZNF727   ZNF735   ZNF736   ZNF92  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_53274059)_(68576213_?)dup
NC_000007.13:g.(?_53341752)_(68041200_?)dup
NC_000007.12:g.(?_53309246)_(67679136_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38753,274,059 - 68,576,213CLINVAR
GRCh37753,341,752 - 68,041,200CLINVAR
Build 36753,309,246 - 67,679,136CLINVAR
Cytogenetic Map77p12.1-q11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620463
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.