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Variant : CV73115 (GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1) Homo sapiens

Symbol: CV73115
Name: GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052289]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052289]|See cases [RCV000052289]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AGMO   AGR2   AGR3   AHR   ANKMY2   BZW2   CRPPA   CRPPA-AS1   FERD3L   HDAC9   HDAC9-AS1   LINC02587   LRRC72   MEOX2   MIR1302-6   PRPS1L1   SNX13   SOSTDC1   TSPAN13   TWIST1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_15133711)_(19642829_?)del
NC_000007.13:g.(?_15173336)_(19682452_?)del
NC_000007.12:g.(?_15139861)_(19648977_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38715,133,711 - 19,642,829CLINVAR
GRCh37715,173,336 - 19,682,452CLINVAR
Build 36715,139,861 - 19,648,977CLINVAR
Cytogenetic Map77p21.2-21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619282
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.