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Variant : CV613967 (GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)) Homo sapiens

Symbol: CV613967
Name: GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)
Condition: 22q13.3 deletion syndrome [RCV000767671]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ACR   ADM2   ALG12   ARSA   BRD1   CHKB   CPT1B   CRELD2   DENND6B   HDAC10   IL17REL   KLHDC7B   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MLC1   MOV10L1   NCAPH2   ODF3B   PANX2   PIM3   PLXNB2   PPP6R2   SBF1   SCO2   SELENOO   SHANK3   SYCE3   TAFA5   TRABD   TTLL8   TUBGCP6   TYMP   ZBED4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372248,533,991 - 51,178,264CLINVAR
Cytogenetic Map2222q13.32-13.33CLINVAR
Trait Synonyms: Phelan-McDermid syndrome; TELOMERIC 22q13 MONOSOMY SYNDROME



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14398879
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-01-07
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.