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Variant : CV158784 (GRCh38/hg38 2q35(chr2:219081620-219758878)x3) Homo sapiens

Symbol: CV158784
Name: GRCh38/hg38 2q35(chr2:219081620-219758878)x3
Condition: See cases [RCV000138093]
Clinical Significance: uncertain significance
Last Evaluated: 01/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB6   ANKZF1   ASIC4   ASIC4-AS1   ATG9A   CHPF   CNPPD1   DES   DNAJB2   DNPEP   GLB1L   GMPPA   INHA   LINC02832   MIR153-1   MIR3132   NHEJ1   OBSL1   PTPRN   RESP18   RETREG2   SLC23A3   SLC4A3   SPEG   SPEGNB   STK11IP   STK16   TMEM198   TUBA4A   TUBA4B   ZFAND2B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_219081620)_(219758878_?)dup
NC_000002.11:g.(?_219946342)_(220623600_?)dup
NC_000002.10:g.(?_219654586)_(220331844_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382219,081,620 - 219,758,878CLINVAR
GRCh372219,946,342 - 220,623,600CLINVAR
Build 362219,654,586 - 220,331,844CLINVAR
Cytogenetic Map22q35CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485642
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-19
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.