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Variant : CV41045 (GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3) Homo sapiens

Symbol: CV41045
Name: GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3
Condition: Expressive language delay [RCV000050379]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050380]|Global developmental delay [RCV000050381]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050380]|See cases [RCV000050379]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   BAZ1B   BCL7B   BUD23   CLDN3   CLDN4   CLIP2   DNAJC30   EIF4H   ELN   FKBP6   FZD9   GTF2I   GTF2IRD1   LAT2   LIMK1   METTL27   MIR10525   MIR4284   MIR590   MLXIPL   RFC2   STX1A   TBL2   TMEM270   VPS37D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73352304)_(74719013_?)dup
NC_000007.13:g.(?_72766313)_(74133332_?)dup
NC_000007.12:g.(?_72404249)_(73771268_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38773,352,304 - 74,719,013CLINVAR
GRCh37772,766,313 - 74,133,332CLINVAR
Build 36772,404,249 - 73,771,268CLINVAR
Cytogenetic Map77q11.23CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617632
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.