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Variant : CV74199 (GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1) Homo sapiens

Symbol: CV74199
Name: GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1
Condition: Intellectual functioning disability [RCV000053447]|See cases [RCV000053447]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANKH   BASP1   BASP1-AS1   CDH12   CDH18   CDH18-AS1   DNAH5   FBXL7   H3Y1   H3Y2   LINC02111   LINC02146   LINC02149   LINC02150   LINC02217   LINC02218   LINC02223   LINC02241   MARCHF11   MIR10522   MIR4637   MIR887   MYO10   OTULIN   OTULINL   RETREG1   SNORA105A   SNORD141B   SNORD170   TRIO   ZNF622  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_13609772)_(21930280_?)del
NC_000005.9:g.(?_13609881)_(21930389_?)del
NC_000005.8:g.(?_13662881)_(21966146_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38513,609,772 - 21,930,280CLINVAR
GRCh37513,609,881 - 21,930,389CLINVAR
Build 36513,662,881 - 21,966,146CLINVAR
Cytogenetic Map55p15.2-14.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620384
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.