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Variant : CV73355 (GRCh38/hg38 18q11.1-11.2(chr18:20964726-25043457)x3) Homo sapiens

Symbol: CV73355
Name: GRCh38/hg38 18q11.1-11.2(chr18:20964726-25043457)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052547]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052547]|See cases [RCV000052547]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD3   ANKRD29   CABLES1   CABYR   CTAGE1   ESCO1   GATA6   GATA6-AS1   GREB1L   HRH4   IMPACT   LAMA3   LINC01894   LINC01900   LINC01915   MIB1   MIR1-2   MIR133A1   MIR133A1HG   MIR320C1   MIR320C2   MIR4741   NPC1   OSBPL1A   RBBP8   RIOK3   RMC1   ROCK1   SNRPD1   TMEM241   TTC39C   TTC39C-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.(?_20964726)_(25043457_?)dup
NC_000018.9:g.(?_18544687)_(22623421_?)dup
NC_000018.8:g.(?_16798685)_(20877419_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381820,964,726 - 25,043,457CLINVAR
GRCh371818,544,687 - 22,623,421CLINVAR
Build 361816,798,685 - 20,877,419CLINVAR
Cytogenetic Map1818q11.1-11.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619524
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.