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

Variant : CV72630 (GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0) Homo sapiens

Symbol: CV72630
Name: GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051778]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051778]|See cases [RCV000051778]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter
Related Genes: BPY2   BPY2B   BPY2C   CDY1   CDY2A   CSPG4P1Y   DAZ1   DAZ2   DAZ3   DAZ4   EIF1AY   GOLGA2P2Y   HSFY1   HSFY2   KDM5D   NLGN4Y   PRORY   PRY   PRY2   RBMY1A1   RBMY1B   RBMY1D   RBMY1E   RBMY1F   RBMY1J   RPS4Y2   TMSB4Y   TTTY10   TTTY13   TTTY14   TTTY17A   TTTY17B   TTTY17C   TTTY3   TTTY3B   TTTY4   TTTY4B   TTTY4C   TTTY5   TTTY6   TTTY6B   TTTY9A   TTTY9B   TXLNGY   UTY   VCY   VCY1B   XKRY   XKRY2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000024.10:g.(?_13404515)_(57208726_?)del
NC_000024.9:g.(?_15516395)_(59354877_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38Y13,404,515 - 57,208,726CLINVAR
GRCh37Y15,516,395 - 59,354,877CLINVAR
Cytogenetic MapYYq11.221-12CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618790
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2014-12-02
Status: ACTIVE



NHLBI Logo

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