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Variant : CV74027 (GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1) Homo sapiens

Symbol: CV74027
Name: GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABAT   ALG1   ANKS3   ATF7IP2   C16orf71   C16orf72   C16orf89   C16orf96   CARHSP1   CDIP1   EEF2KMT   EMP2   GLYR1   GRIN2A   LINC01177   LINC01195   LINC01570   LINC02164   LINC02177   METTL22   MGRN1   MIR6769A   MIR8065   NAGPA   NAGPA-AS1   NUBP1   NUDT16L1   PMM2   PPL   RBFOX1   ROGDI   SEC14L5   SEPTIN12   SMIM22   TEKT5   TMEM114   TMEM186   TVP23A   UBALD1   UBN1   USP7   ZNF500  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_4536131)_(10852466_?)del
NC_000016.9:g.(?_4586132)_(10946323_?)del
NC_000016.8:g.(?_4526133)_(10853824_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38164,536,131 - 10,852,466CLINVAR
GRCh37164,586,132 - 10,946,323CLINVAR
Build 36164,526,133 - 10,853,824CLINVAR
Cytogenetic Map1616p13.3-13.13CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620211
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.