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Variant : CV73130 (GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1) Homo sapiens

Symbol: CV73130
Name: GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052304]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052304]|See cases [RCV000052304]
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   FERD3L   HDAC9   HDAC9-AS1   ITGB8   LINC01162   MACC1   MACC1-AS1   MIR3146   SP8   TMEM196   TWIST1   TWISTNB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_18505390)_(21417733_?)del
NC_000007.13:g.(?_18545013)_(21457351_?)del
NC_000007.12:g.(?_18511538)_(21423876_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38718,505,390 - 21,417,733CLINVAR
GRCh37718,545,013 - 21,457,351CLINVAR
Build 36718,511,538 - 21,423,876CLINVAR
Cytogenetic Map77p21.1-15.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619297
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.