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Variant : CV164762 (GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3) Homo sapiens

Symbol: CV164762
Name: GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3
Condition: See cases [RCV000143075]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD3   AFG3L2   ANKRD12   ANKRD29   ANKRD30B   ANKRD62   APCDD1   C18orf15   C18orf61   CABLES1   CABYR   CEP192   CEP76   CHMP1B   CIDEA   CTAGE1   ESCO1   FAM210A   GATA6   GATA6-AS1   GNAL   GREB1L   HRH4   IMPA2   IMPACT   LAMA3   LDLRAD4   LDLRAD4-AS1   LINC01254   LINC01255   LINC01443   LINC01444   LINC01882   LINC01887   LINC01900   LINC01906   LINC01915   LINC01928   MC2R   MC5R   MIB1   MIR1-2   MIR133A1   MIR133A1HG   MIR3156-2   MIR320C1   MIR320C2   MIR4526   MIR4741   MIR5190   MIR6788   MIR7153   MPPE1   MTCL1   NAPG   NDUFV2   NDUFV2-AS1   NPC1   OSBPL1A   PIEZO2   POTEC   PPP4R1   PPP4R1-AS1   PRELID3A   PSMG2   PTPN2   RAB31   RALBP1   RBBP8   RIOK3   RMC1   RNMT   ROCK1   SEH1L   SLC35G4   SNRPD1   SPIRE1   TMEM241   TTC39C   TTC39C-AS1   TUBB6   TWSG1   TXNDC2   VAPA   ZNF519  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.(?_8779843)_(24685379_?)dup
NC_000018.9:g.(?_8779841)_(22265343_?)dup
NC_000018.8:g.(?_8769841)_(20519341_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38188,779,843 - 24,685,379CLINVAR
GRCh37188,779,841 - 22,265,343CLINVAR
Build 36188,769,841 - 20,519,341CLINVAR
Cytogenetic Map1818p11.22-q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490673
Created: 2014-09-09
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.