GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3Rat Genome Database

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Variant : CV73779 (GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3) Homo sapiens

Symbol: CV73779
Name: GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3
RGD ID: 8619953
Condition: Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter
Related Genes: ABCB7   ABCD1   ACE2   ACOT9   ACSL4   ACTRT1   ADGRG2   ADGRG4   AFF2   AGTR2   AIFM1   AKAP14   AKAP4   ALAS2   ALG13   AMELX   AMER1   AMMECR1   AMOT   ANOS1   AP1S2   APEX2   APLN   APOO   APOOL   AR   ARAF   ARHGAP36   ARHGAP4   ARHGAP6   ARHGEF6   ARHGEF9   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ARR3   ARSD   ARSF   ARSH   ARSL   ARX   ASB11   ASB12   ASB9   ATG4A   ATP11C   ATP1B4   ATP2B3   ATP6AP1   ATP6AP2   ATP7A   ATRX   ATXN3L   AVPR2   AWAT1   AWAT2   BCAP31   BCLAF3   BCOR   BCORL1   BEND2   BEX1   BEX2   BEX3   BEX4   BEX5   BGN   BHLHB9   BMP15   BMX   BRCC3   BRS3   BRWD3   BTK   C1GALT1C1   CA5B   CACNA1F   CAPN6   CASK   CBLL2   CCDC120   CCDC160   CCDC22   CCNB3   CCNQ   CD40LG   CD99L2   CDK16   CDKL5   CDR1   CDX4   CENPI   CETN2   CFAP47   CFP   CHIC1   CHM   CHRDL1   CHST7   CITED1   CLCN4   CLCN5   CLDN2   CLIC2   CLTRN   CMC4   CNGA2   CNKSR2   COL4A5   COL4A6   COX7B   CPXCR1   CSAG1   CSAG3   CSTF2   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RPL39   RPS4X   RPS6KA3   RPS6KA6   RRAGB   RS1   RTL3   RTL4   RTL5   RTL8A   RTL8B   RTL8C   RTL9   S100G   SAGE1   SASH3   SAT1   SATL1   SCML1   SCML2   SEPTIN6   SERPINA7   SH2D1A   SH3BGRL   SH3KBP1   SHROOM2   SHROOM4   SLC10A3   SLC16A2   SLC25A14   SLC25A43   SLC25A5   SLC25A53   SLC35A2   SLC38A5   SLC6A14   SLC6A8   SLC7A3   SLC9A6   SLC9A7   SLITRK2   SLITRK4   SMARCA1   SMC1A   SMIM10   SMIM9   SMPX   SMS   SNORA11   SNX12   SOWAHD   SOX3   SPACA5   SPACA5B   SPANXA1   SPANXA2   SPANXB1   SPANXC   SPANXD   SPANXN1   SPANXN2   SPANXN3   SPANXN4   SPANXN5   SPIN2A   SPIN2B   SPIN3   SPIN4   SRPK3   SRPX   SRPX2   SSR4   SSX1   SSX2   SSX2B   SSX3   SSX4   SSX4B   SSX5   SSX6P   SSX7   SSX8P   SSX9P   STAG2   STARD8   STEEP1   STK26   STS   SUPT20HL1   SUPT20HL2   SUV39H1   SYAP1   SYN1   SYP   SYTL4   SYTL5   TAB3   TAF1   TAF7L   TAF9B   TAFAZZIN   TASL   TBC1D25   TBC1D8B   TBL1X   TBX22   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   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Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_26102)_(155996431_?)dup
NC_000023.10:g.(?_76102)_(155226096_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X26,102 - 155,996,431CLINVAR
GRCh37X76,102 - 155,226,096CLINVAR
Cytogenetic MapXXp22.33-q28CLINVAR
Trait Synonyms: multiple congenital anomalies; Short stature; unexplained developmental delay/intellectual disability
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.




Additional Information