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Variant : CV72634 (GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3) Homo sapiens

Symbol: CV72634
Name: GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|See cases [RCV000051782]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAP3   ACTRT2   AGRN   AJAP1   ANKRD65   ARHGEF16   ATAD3A   ATAD3B   ATAD3C   AURKAIP1   B3GALT6   C1orf159   C1orf174   C1QTNF12   CALML6   CCDC27   CCNL2   CDK11A   CDK11B   CEP104   CFAP74   CHD5   CPTP   DFFB   DVL1   FAAP20   FAM41C   FNDC10   GABRD   GNB1   HES4   HES5   ICMT   INTS11   ISG15   KCNAB2   KLHL17   LINC01128   LINC01134   LINC01342   LINC01345   LINC01346   LINC01646   LINC01770   LINC01777   LINC01786   LRRC47   MEGF6   MIB2   MIR200A   MIR200B   MIR4251   MIR429   MIR4689   MIR551A   MIR6726   MIR6727   MIR6808   MMEL1   MMP23A   MMP23B   MORN1   MRPL20   MXRA8   NADK   NOC2L   NPHP4   PANK4   PERM1   PEX10   PLCH2   PLEKHN1   PRDM16   PRDM16-DT   PRKCZ   PRKCZ-AS1   PRXL2B   PUSL1   RER1   RNF207   RNF223   RPL22   SAMD11   SCNN1D   SDF4   SKI   SLC35E2A   SLC35E2B   SMIM1   SSU72   TAS1R3   TMEM240   TMEM52   TMEM88B   TNFRSF14   TNFRSF14-AS1   TNFRSF18   TNFRSF4   TP73   TP73-AS1   TPRG1L   TTC34   TTLL10   TTLL10-AS1   UBE2J2   VWA1   WRAP73  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_844347)_(6231924_?)dup
NC_000001.10:g.(?_779727)_(6291984_?)dup
NC_000001.9:g.(?_769590)_(6214571_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381844,347 - 6,231,924CLINVAR
GRCh371779,727 - 6,291,984CLINVAR
Build 361769,590 - 6,214,571CLINVAR
Cytogenetic Map11p36.33-36.31CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618794
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.