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

Variant : CV436403 (GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1) Homo sapiens

Symbol: CV436403
Name: GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1
Condition: See cases [RCV000510212]
Clinical Significance: pathogenic
Last Evaluated: 12/14/2014
Review Status: no assertion criteria provided
Related Genes: ACOT7   ACTRT2   AJAP1   ARHGEF16   C1orf174   CAMTA1   CCDC27   CEP104   CHD5   DFFB   DNAJC11   ESPN   GPR153   HES2   HES3   ICMT   KCNAB2   KLHL21   LRRC47   MEGF6   MIR551A   NOL9   NPHP4   PHF13   PLEKHG5   PRDM16   RNF207   RPL22   SMIM1   TAS1R1   THAP3   TNFRSF25   TP73   TPRG1L   WRAP73   ZBTB48  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3712,793,822 - 7,510,850CLINVAR
Cytogenetic Map11p36.32-36.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13443192
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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