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Variant : CV157376 (GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1) Homo sapiens

Symbol: CV157376
Name: GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1
Condition: See cases [RCV000136789]
Clinical Significance: pathogenic
Last Evaluated: 01/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAP1   AMZ1   BRAT1   C7orf50   CARD11   CARD11-AS1   CHST12   COX19   CYP2W1   DNAAF5   EIF3B   ELFN1   ELFN1-AS1   FAM20C   FOXL3   FOXL3-OT1   GET4   GNA12   GPER1   GPR146   GRIFIN   INTS1   IQCE   LFNG   LNCRI   MAD1L1   MAFK   MICALL2   MIR339   MIR4648   MIR4655   MIR6836   MRM2   NUDT1   PDGFA   PRKAR1B   PRKAR1B-AS1   PRKAR1B-AS2   PSMG3   PSMG3-AS1   SDK1   SNORA114   SNX8   SUN1   TMEM184A   TTYH3   UNCX   ZFAND2A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_54185)_(3324143_?)del
NC_000007.13:g.(?_54185)_(3363775_?)del
NC_000007.12:g.(?_149268)_(3330301_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38754,185 - 3,324,143CLINVAR
GRCh37754,185 - 3,363,775CLINVAR
Build 367149,268 - 3,330,301CLINVAR
Cytogenetic Map77p22.3-22.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484350
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.