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Variant : CV74435 (GRCh38/hg38 14q32.33(chr14:106501955-106850609)x1) Homo sapiens

Symbol: CV74435
Name: GRCh38/hg38 14q32.33(chr14:106501955-106850609)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053708]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053708]|See cases [RCV000053708]
Clinical Significance: benign
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: IGH   IGHV1-45   IGHV1-46   IGHV1-58   IGHV1-69   IGHV1-69-2   IGHV1-69D   IGHV2-70   IGHV2-70D   IGHV3-48   IGHV3-49   IGHV3-53   IGHV3-64   IGHV3-66   IGHV3-72   IGHV3-73   IGHV3-74   IGHV4-59   IGHV4-61   IGHV5-51  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_106501955)_(106850609_?)del
NC_000014.8:g.(?_106957891)_(107258824_?)del
NC_000014.7:g.(?_106028936)_(106329869_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3814106,501,955 - 106,850,609CLINVAR
GRCh3714106,957,891 - 107,258,824CLINVAR
Build 3614106,028,936 - 106,329,869CLINVAR
Cytogenetic Map1414q32.33CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620626
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.