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

Variant : CV72471 (GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1) Homo sapiens

Symbol: CV72471
Name: GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1
Condition: Macrocephaly [RCV000051616]|See cases [RCV000051616]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACTC1   AQR   ARHGAP11A   AVEN   C15orf41   C15orf54   CHRM5   DPH6   DPH6-DT   EMC4   EMC7   FAM98B   FMN1   GJD2   GOLGA8A   GOLGA8B   GOLGA8K   GOLGA8N   GOLGA8O   GREM1   KATNBL1   LINC01852   LINC02252   LINC02256   LINC02345   LINC02694   LINC02853   LPCAT4   MEIS2   MIR1233-1   MIR1233-2   MIR3942   MIR4510   MIR8063   NANOGP8   NOP10   NUTM1   PGBD4   RASGRP1   RYR3   SCG5   SLC12A6   SPRED1   TMCO5A   ZNF770  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_32326136)_(39394068_?)del
Human AssemblyChrPosition (strand)Source
GRCh381532,326,136 - 39,394,068CLINVAR
GRCh371532,618,337 - 39,686,269CLINVAR
Build 361530,405,629 - 37,473,561CLINVAR
Cytogenetic Map1515q13.3-14CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8618631
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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