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Variant : CV73007 (GRCh38/hg38 8p21.3(chr8:20015542-20735743)x3) Homo sapiens

Symbol: CV73007
Name: GRCh38/hg38 8p21.3(chr8:20015542-20735743)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052166]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052166]|See cases [RCV000052166]
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: ATP6V1B2   LZTS1   LZTS1-AS1   SLC18A1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_20015542)_(20735743_?)dup
NC_000008.10:g.(?_19873053)_(20593254_?)dup
NC_000008.9:g.(?_19917333)_(20637534_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38820,015,542 - 20,735,743CLINVAR
GRCh37819,873,053 - 20,593,254CLINVAR
Build 36819,917,333 - 20,637,534CLINVAR
Cytogenetic Map88p21.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8619170
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.