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Variant : CV72543 (GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3) Homo sapiens

Symbol: CV72543
Name: GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051690]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051690]|See cases [RCV000051690]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANKRD28   ARL8B   ARPC4   ARPC4-TTLL3   ATG7   ATP2B2   ATP2B2-IT2   BHLHE40   BHLHE40-AS1   BRK1   BRPF1   BTD   C3orf20   CAMK1   CAND2   CAPN7   CAV3   CCDC174   CHCHD4   CHL1   CHL1-AS1   CHL1-AS2   CIDEC   CNTN4   CNTN4-AS1   CNTN4-AS2   CNTN6   COLQ   CPNE9   CRBN   CRELD1   DAZL   DPH3   EAF1   EDEM1   EFHB   EGOT   EMC3   EMC3-AS1   FANCD2   FANCD2OS   FBLN2   FGD5   FGD5-AS1   GALNT15   GHRL   GHRLOS   GRIP2   GRM7   GRM7-AS1   GRM7-AS2   GRM7-AS3   HACL1   HDAC11   HDAC11-AS1   HRH1   IL17RC   IL17RE   IL5RA   IQSEC1   IRAK2   ITPR1   ITPR1-DT   JAGN1   KAT2B   KCNH8   LHFPL4   LINC00312   LINC00606   LINC00620   LINC00690   LINC00852   LINC01266   LINC01267   LINC02011   LINC02022   LMCD1   LMCD1-AS1   LRRN1   LSM3   METTL6   MIR12127   MIR3134   MIR3135A   MIR3714   MIR378B   MIR4270   MIR4790   MIR4791   MIR563   MIR885   MKRN2   MKRN2OS   MRPS25   MTMR14   NR2C2   NUP210   OGG1   OXNAD1   OXTR   PLCL2   PP2D1   PPARG   PRRT3   PRRT3-AS1   RAB5A   RAD18   RAF1   RBSN   RFTN1   RPL32   RPUSD3   SATB1   SATB1-AS1   SEC13   SETD5   SETMAR   SGO1   SGO1-AS1   SH3BP5   SH3BP5-AS1   SLC6A1   SLC6A1-AS1   SLC6A11   SLC6A6   SNORA7A   SNORA93   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   SUMF1   SYN2   TADA3   TAMM41   TATDN2   TBC1D5   THUMPD3   THUMPD3-AS1   TIMP4   TMEM40   TMEM43   TRNT1   TSEN2   TTLL3   VGLL4   VHL   WNT7A   XPC  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000003.11:g.(?_93749)_(20321619_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38352,066 - 20,280,127CLINVAR
GRCh37393,749 - 20,321,619CLINVAR
Build 36368,749 - 20,296,623CLINVAR
Cytogenetic Map33p26.3-24.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8618703
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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