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Variant : CV72725 (GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3) Homo sapiens

Symbol: CV72725
Name: GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB10   ACBD3   ACBD3-AS1   ACTA1   ACTN2   ADSS2   AGT   AHCTF1   AIDA   AKT3   ARF1   ARID4B   ARV1   B3GALNT2   BECN2   BROX   BTNL10   C1orf100   C1orf131   C1orf198   C1orf229   C1orf35   CAPN2   CAPN8   CAPN9   CATSPERE   CCDC185   CCSAP   CDC42BPA   CEP170   CHML   CHRM3   CHRM3-AS1   CHRM3-AS2   CNIH3   CNIH4   CNST   COA6   COG2   COQ8A   COX20   DEGS1   DESI2   DISC1   DISC1-IT1   DISC2   DISP1   DNAH14   EDARADD   EFCAB2   EGLN1   ENAH   EPHX1   ERO1B   EXO1   EXOC8   FAM177B   FAM89A   FBXO28   FH   FMN2   GALNT2   GCSAML   GCSAML-AS1   GGPS1   GJC2   GNG4   GNPAT   GPR137B   GREM2   GUK1   H2AW   H2BU1   H3-3A   H3-4   HEATR1   HHIPL2   HNRNPU   IBA57   IBA57-DT   IRF2BP2   ITPKB   ITPKB-IT1   JMJD4   KCNK1   KIF26B   KIF28P   KMO   LBR   LEFTY1   LEFTY2   LGALS8   LGALS8-AS1   LIN9   LINC00184   LINC00582   LINC01132   LINC01139   LINC01341   LINC01347   LINC01348   LINC01354   LINC01682   LINC01703   LINC01736   LINC01737   LINC01743   LINC01744   LINC01745   LINC02257   LYPD8   LYST   MAP10   MAP1LC3C   MAP3K21   MIA3   MIR1182   MIR1537   MIR3123   MIR3124   MIR320B2   MIR3620   MIR3916   MIR4427   MIR4428   MIR4666A   MIR4671   MIR4677   MIR4742   MIR4753   MIR5008   MIR6741   MIR6742   MIXL1   MRPL55   MT1HL1   MTR   NID1   NLRP3   NTPCR   NUP133   NVL   OBSCN   OBSCN-AS1   OPN3   OR11L1   OR13G1   OR14A16   OR14A2   OR14C36   OR14I1   OR1C1   OR2AJ1   OR2AK2   OR2B11   OR2C3   OR2G2   OR2G3   OR2G6   OR2L13   OR2L2   OR2L3   OR2L5   OR2L8   OR2M2   OR2M3   OR2M4   OR2M5   OR2M7   OR2T1   OR2T10   OR2T11   OR2T12   OR2T2   OR2T27   OR2T29   OR2T3   OR2T33   OR2T34   OR2T35   OR2T4   OR2T5   OR2T6   OR2T7   OR2T8   OR2W3   OR2W5   OR6F1   PARP1   PCNX2   PGBD2   PGBD5   PLD5   PRSS38   PSEN2   PYCR2   RAB4A   RBM34   RGS7   RHOU   RNA5S1   RNA5S10   RNA5S11   RNA5S12   RNA5S13   RNA5S14   RNA5S15   RNA5S16   RNA5S17   RNA5S2   RNA5S3   RNA5S4   RNA5S5   RNA5S6   RNA5S7   RNA5S8   RNA5S9   RNF187   RYR2   SCCPDH   SDCCAG8   SDE2   SH3BP5L   SIPA1L2   SLC35F3   SMYD3   SNAP47   SNORA100   SNORA14B   SPRTN   SRP9   STUM   SUSD4   TAF1A   TAF1A-AS1   TAF5L   TARBP1   TBCE   TFB2M   TLR5   TMEM63A   TOMM20   TP53BP2   TRE-CTC2-1   TRIM11   TRIM17   TRIM58   TRIM67   TRL-CAA4-1   TRT-TGT2-1   TSNAX   TSNAX-DISC1   TTC13   URB2   VN1R5   WDR26   WDR64   WNT3A   WNT9A   ZBTB18   ZNF124   ZNF496   ZNF669   ZNF670   ZNF670-ZNF695   ZNF672   ZNF678   ZNF692   ZNF695   ZP4  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_221902539)_(248918469_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381221,902,539 - 248,918,469CLINVAR
GRCh371222,075,881 - 249,212,668CLINVAR
Build 361220,142,504 - 247,179,291CLINVAR
Cytogenetic Map11q41-44CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability

Additional Information

CRRD Object Information
CRRD ID: 8618886
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.