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Variant : CV73112 (GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1) Homo sapiens

Symbol: CV73112
Name: GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|See cases [RCV000052280]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB5   AGMO   AGR2   AGR3   AHR   ANKMY2   ARL4A   BZW2   CDCA7L   CRPPA   CRPPA-AS1   DGKB   DNAH11   ETV1   FERD3L   HDAC9   ITGB8   LINC01162   LINC02587   LRRC72   MACC1   MACC1-AS1   MEOX2   MIR1183   MIR1302-6   MIR3146   NDUFA4   NXPH1   PHF14   PRPS1L1   SCIN   SNX13   SOSTDC1   SP4   SP8   THSD7A   TMEM106B   TMEM196   TSPAN13   TWIST1   TWISTNB   VWDE  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_8274775)_(21988311_?)del
NC_000007.13:g.(?_8314405)_(22027929_?)del
NC_000007.12:g.(?_8280930)_(21994454_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3878,274,775 - 21,988,311CLINVAR
GRCh3778,314,405 - 22,027,929CLINVAR
Build 3678,280,930 - 21,994,454CLINVAR
Cytogenetic Map77p21.3-15.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619277
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.