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Variant : CV73508 (GRCh38/hg38 2q37.3(chr2:241179464-242065349)x1) Homo sapiens

Symbol: CV73508
Name: GRCh38/hg38 2q37.3(chr2:241179464-242065349)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|See cases [RCV000052705]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANO7   ATG4B   BOK   BOK-AS1   D2HGDH   DTYMK   FARP2   GAL3ST2   HDLBP   ING5   LINC01237   LINC01238   LINC01880   LOC285097   MIR3133   NEU4   PDCD1   PPP1R7   RTP5   SEPTIN2   STK25   THAP4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_241179464)_(242065349_?)del
NC_000002.11:g.(?_242118879)_(243007500_?)del
NC_000002.10:g.(?_241767552)_(242656173_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382241,179,464 - 242,065,349CLINVAR
GRCh372242,118,879 - 243,007,500CLINVAR
Build 362241,767,552 - 242,656,173CLINVAR
Cytogenetic Map22q37.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619680
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.