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Variant : CV74187 (GRCh38/hg38 7p15.3(chr7:22680265-23369688)x3) Homo sapiens

Symbol: CV74187
Name: GRCh38/hg38 7p15.3(chr7:22680265-23369688)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053435]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053435]|See cases [RCV000053435]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: FAM126A   GPNMB   IGF2BP3   IL6   KLHL7   KLHL7-DT   MALSU1   NUP42   SNORD93   TOMM7  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_22680265)_(23369688_?)dup
NC_000007.13:g.(?_22719884)_(23409307_?)dup
NC_000007.12:g.(?_22686409)_(23375832_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38722,680,265 - 23,369,688CLINVAR
GRCh37722,719,884 - 23,409,307CLINVAR
Build 36722,686,409 - 23,375,832CLINVAR
Cytogenetic Map77p15.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620372
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.