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Variant : CV74493 (GRCh38/hg38 1p36.21-36.13(chr1:15173497-18242678)x1) Homo sapiens

Symbol: CV74493
Name: GRCh38/hg38 1p36.21-36.13(chr1:15173497-18242678)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053769]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053769]|See cases [RCV000053769]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACTL8   AGMAT   ARHGEF10L   ARHGEF19   ATP13A2   CASP9   CELA2A   CELA2B   CLCNKA   CLCNKB   CPLANE2   CROCC   CTRC   DDI2   DNAJC16   EFHD2   EPHA2   FAM131C   FBLIM1   FBXO42   FHAD1   FHAD1-AS1   HSPB7   IGSF21   IGSF21-AS1   LINC01654   LINC01772   LINC01783   LINC02783   MFAP2   MIR3675   MIR3972   MST1L   NBPF1   NECAP2   PADI1   PADI2   PADI3   PADI4   PADI6   PLEKHM2   RCC2   RNU1-1   RNU1-2   RNU1-3   RNU1-4   RSC1A1   SCARNA21B   SDHB   SLC25A34   SLC25A34-AS1   SPATA21   SPEN   SRARP   SZRD1   TMEM51   TMEM82   TRE-TTC3-1   TRE-TTC4-1   TRG-CCC1-1   TRG-CCC1-2   TRG-CCC4-1   TRG-CCC5-1   TRN-GTT13-1   TRN-GTT4-1   TRN-GTT5-1   TRQ-CTG14-1   UQCRHL   ZBTB17  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_15173497)_(18242678_?)del
NC_000001.10:g.(?_15499993)_(18569172_?)del
NC_000001.9:g.(?_15372580)_(18441759_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38115,173,497 - 18,242,678CLINVAR
GRCh37115,499,993 - 18,569,172CLINVAR
Build 36115,372,580 - 18,441,759CLINVAR
Cytogenetic Map11p36.21-36.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620684
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.