Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV41475 (GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0) Homo sapiens

Symbol: CV41475
Name: GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050370]|See cases [RCV000050370]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: BPY2   BPY2B   BPY2C   CDY1   CDY1B   DAZ1   DAZ2   DAZ3   DAZ4   EIF1AY   IL9R   KDM5D   PRORY   PRY   PRY2   RBMY1A1   RBMY1B   RBMY1D   RBMY1E   RBMY1F   RBMY1J   RPS4Y2   SPRY3   TTTY10   TTTY13   TTTY14   TTTY17A   TTTY17B   TTTY17C   TTTY3   TTTY3B   TTTY4   TTTY4B   TTTY4C   TTTY5   TTTY6   TTTY6B   VAMP7   WASIR1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000024.10:g.(?_18891467)_(57208726_?)del
NC_000024.9:g.(?_21053353)_(59354877_?)del
NC_000024.8:g.(?_19512741)_(57764265_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38Y18,891,467 - 57,208,726CLINVAR
GRCh37Y21,053,353 - 59,354,877CLINVAR
Build 36Y19,512,741 - 57,764,265CLINVAR
Cytogenetic MapYYq11.222-12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617623
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.