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Variant : CV157245 (GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1) Homo sapiens

Symbol: CV157245
Name: GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1
Condition: See cases [RCV000136673]
Clinical Significance: uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CHST12   EIF3B   ELFN1   ELFN1-AS1   GRIFIN   INTS1   LFNG   LNCRI   MAD1L1   MAFK   MICALL2   MIR4648   MIR4655   MIR6836   MRM2   NUDT1   PSMG3   PSMG3-AS1   SNORA114   SNX8   TMEM184A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_1330987)_(2530644_?)del
NC_000007.13:g.(?_1370623)_(2570278_?)del
NC_000007.12:g.(?_1337149)_(2536804_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3871,330,987 - 2,530,644CLINVAR
GRCh3771,370,623 - 2,570,278CLINVAR
Build 3671,337,149 - 2,536,804CLINVAR
Cytogenetic Map77p22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484234
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.