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Variant : CV71992 (GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3) Homo sapiens

Symbol: CV71992
Name: GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3
Condition: Cleft palate, isolated [RCV000051097]|See cases [RCV000051097]
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   ARPP21   ATG7   ATP2B2   ATP2B2-IT2   AZI2   BHLHE40   BHLHE40-AS1   BRK1   BRPF1   BTD   C3orf20   CAMK1   CAND2   CAPN7   CAV3   CCDC174   CCR4   CHCHD4   CHL1   CHL1-AS1   CHL1-AS2   CIDEC   CLASP2   CMC1   CMTM6   CMTM7   CMTM8   CNOT10   CNTN4   CNTN4-AS1   CNTN4-AS2   CNTN6   COLQ   CPNE9   CRBN   CRELD1   CRTAP   DAZL   DCLK3   DPH3   DYNC1LI1   EAF1   EDEM1   EFHB   EGOT   EMC3   EMC3-AS1   EOMES   EPM2AIP1   FANCD2   FANCD2OS   FBLN2   FBXL2   FGD5   FGD5-AS1   GADL1   GALNT15   GHRL   GHRLOS   GLB1   GPD1L   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   LINC01811   LINC01980   LINC01981   LINC01985   LINC02011   LINC02022   LINC02033   LINC02084   LMCD1   LMCD1-AS1   LRRC3B   LRRFIP2   LRRN1   LSM3   METTL6   MIR12127   MIR128-2   MIR3134   MIR3135A   MIR3714   MIR378B   MIR4270   MIR4442   MIR466   MIR4790   MIR4791   MIR548AY   MIR563   MIR885   MKRN2   MKRN2OS   MLH1   MRPS25   MTMR14   NEK10   NGLY1   NKIRAS1   NR1D2   NR2C2   NUP210   OGG1   OSBPL10   OSBPL10-AS1   OXNAD1   OXSM   OXTR   PDCD6IP   PLCL2   PP2D1   PPARG   PRRT3   PRRT3-AS1   RAB5A   RAD18   RAF1   RARB   RARB-AS1   RBMS3   RBMS3-AS1   RBMS3-AS2   RBMS3-AS3   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   STAC   STT3B   SUMF1   SUSD5   SYN2   TADA3   TAMM41   TATDN2   TBC1D5   TGFBR2   THRB   THRB-AS1   THUMPD3   THUMPD3-AS1   TIMP4   TMEM40   TMEM43   TMPPE   TOP2B   TRANK1   TRIM71   TRNT1   TSEN2   TTLL3   UBE2E1   UBE2E1-AS1   UBE2E2   UBE2E2-AS1   UBP1   VGLL4   VHL   WNT7A   XPC   ZCWPW2   ZNF385D   ZNF385D-AS1   ZNF385D-AS2   ZNF860  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.11:g.(?_93949)_(37189567_?)dup
NC_000003.10:g.(?_68949)_(37164571_?)dup
NC_000003.12:g.(?_52266)_(37148076_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38352,266 - 37,148,076CLINVAR
GRCh37393,949 - 37,189,567CLINVAR
Build 36368,949 - 37,164,571CLINVAR
Cytogenetic Map33p26.3-22.2CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618139
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.