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Variant : CV72571 (GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3) Homo sapiens

Symbol: CV72571
Name: GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718]
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   AZI2   BHLHE40   BHLHE40-AS1   BRK1   BRPF1   BTD   C3orf20   CAMK1   CAND2   CAPN7   CAV3   CCDC174   CHCHD4   CHL1   CHL1-AS1   CHL1-AS2   CIDEC   CMC1   CNTN4   CNTN4-AS1   CNTN4-AS2   CNTN6   COL6A4P1   COLQ   CPNE9   CRBN   CRELD1   DAZL   DPH3   EAF1   EDEM1   EFHB   EGOT   EMC3   EMC3-AS1   EOMES   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   LINC00691   LINC00692   LINC00693   LINC00852   LINC01266   LINC01267   LINC01980   LINC01981   LINC02011   LINC02022   LINC02084   LMCD1   LMCD1-AS1   LRRC3B   LRRN1   LSM3   METTL6   MIR3134   MIR3135A   MIR3714   MIR378B   MIR4270   MIR4442   MIR4790   MIR4791   MIR563   MIR885   MKRN2   MKRN2OS   MRPS25   MTMR14   NEK10   NGLY1   NKIRAS1   NR1D2   NR2C2   NUP210   OGG1   OXNAD1   OXSM   OXTR   PLCL2   PP2D1   PPARG   PRRT3   PRRT3-AS1   RAB5A   RAD18   RAF1   RARB   RBSN   RFTN1   RPL15   RPL32   RPUSD3   SATB1   SATB1-AS1   SEC13   SETD5   SETMAR   SGO1   SGO1-AS1   SH3BP5   SH3BP5-AS1   SLC4A7   SLC6A1   SLC6A1-AS1   SLC6A11   SLC6A6   SNORA7A   SNORA93   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   SUMF1   SYN2   TADA3   TAMM41   TATDN2   TBC1D5   THRB   THRB-AS1   THUMPD3   THUMPD3-AS1   TIMP4   TMEM40   TMEM43   TOP2B   TPRXL   TRNT1   TSEN2   TTLL3   UBE2E1   UBE2E1-AS1   UBE2E2   UBE2E2-AS1   VGLL4   VHL   WNT7A   XPC   ZCWPW2   ZNF385D   ZNF385D-AS1   ZNF385D-AS2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_52266)_(29248782_?)dup
NC_000003.11:g.(?_93949)_(29290273_?)dup
NC_000003.10:g.(?_68949)_(29265277_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38352,266 - 29,248,782CLINVAR
GRCh37393,949 - 29,290,273CLINVAR
Build 36368,949 - 29,265,277CLINVAR
Cytogenetic Map33p26.3-24.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618731
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.