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Variant : CV614619 (Single allele) Homo sapiens

Symbol: CV614619
Name: Single allele
Condition: Deletion of long arm of chromosome 18 [RCV000768454]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: ADNP2   ATP9B   BCL2   C18orf63   CBLN2   CCDC102B   CD226   CDH19   CDH20   CDH7   CNDP1   CNDP2   CTDP1   CYB5A   DIPK1C   DOK6   DSEL   FBXO15   GALR1   HMSD   HSBP1L1   KCNG2   KDSR   LINC00683   LINC01879   MBP   MC4R   NETO1   NFATC1   PARD6G   PHLPP1   PIGN   RBFA   RELCH   RNF152   RTTN   SALL3   SERPINB10   SERPINB11   SERPINB12   SERPINB13   SERPINB2   SERPINB3   SERPINB4   SERPINB5   SERPINB7   SERPINB8   SLC66A2   SMIM21   SOCS6   TIMM21   TMX3   TNFRSF11A   TSHZ1   TXNL4A   VPS4B   ZADH2   ZCCHC2   ZNF236   ZNF407   ZNF516  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: case-control
Position
Human AssemblyChrPosition (strand)Source
GRCh371858,024,137 - 77,996,821CLINVAR
Cytogenetic Map1818q21.32-23CLINVAR
Trait Synonyms: 18q syndrome; Chromosome 18 deletion syndrome; Chromosome 18, monosomy 18Q; CHROMOSOME 18q DELETION SYNDROME; Chromosome 18q syndrome; Monosomy 18q syndrome; Monosomy 18q, deletion 18q



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399336
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-11-17
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.