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Variant : CV437140 (GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1) Homo sapiens

Symbol: CV437140
Name: GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1
Condition: See cases [RCV000511381]
Clinical Significance: pathogenic
Last Evaluated: 06/22/2015
Review Status: no assertion criteria provided
Related Genes: ACAP3   ACOT7   ACTRT2   AGRN   AJAP1   ANKRD65   ARHGEF16   ATAD3A   ATAD3B   ATAD3C   AURKAIP1   B3GALT6   C1orf159   C1orf174   C1QTNF12   CALML6   CAMTA1   CCDC27   CCNL2   CDK11A   CDK11B   CEP104   CFAP74   CHD5   CPTP   DFFB   DNAJC11   DVL1   ESPN   FAAP20   FNDC10   GABRD   GNB1   GPR153   HES2   HES3   HES4   HES5   ICMT   INTS11   ISG15   KCNAB2   KLHL17   KLHL21   LRRC47   MEGF6   MIB2   MIR200A   MIR200B   MIR429   MIR551A   MMEL1   MMP23B   MORN1   MRPL20   MXRA8   NADK   NOC2L   NOL9   NPHP4   PANK4   PEX10   PHF13   PLCH2   PLEKHG5   PLEKHN1   PRDM16   PRKCZ   PRXL2B   PUSL1   RER1   RNF207   RNF223   RPL22   SAMD11   SCNN1D   SDF4   SKI   SLC35E2A   SLC35E2B   SMIM1   SSU72   TAS1R1   TAS1R3   THAP3   TMEM240   TMEM52   TMEM88B   TNFRSF14   TNFRSF18   TNFRSF25   TNFRSF4   TP73   TPRG1L   TTC34   TTLL10   UBE2J2   VWA1   WRAP73   ZBTB48  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371849,466 - 7,637,060CLINVAR
Cytogenetic Map11p36.33-36.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13444353
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-12-03
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.