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Variant : CV164337 (GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1) Homo sapiens

Symbol: CV164337
Name: GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1
Condition: See cases [RCV000142650]
Clinical Significance: pathogenic
Last Evaluated: 09/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AATBC   ABCG1   AGPAT3   B3GALT5   B3GALT5-AS1   BACE2   C2CD2   CBS   CRYAA   CSTB   DSCAM   DSCAM-AS1   DSCAM-IT1   ERVH48-1   FAM3B   FRGCA   GATD3A   GET1   GET1-SH3BGR   H2BS1   HSF2BP   ICOSLG   IGSF5   LCA5L   LINC00111   LINC00112   LINC00313   LINC00319   LINC00322   LINC00323   LINC00479   LINC01668   LINC01671   LINC01678   LINC01679   MIR3197   MIR4760   MIR5692B   MIR6070   MIR6508   MIR6814   MX1   MX2   NDUFV3   PCP4   PCSEAT   PDE9A   PDE9A-AS1   PDXK   PKNOX1   PLAC4   PRDM15   PWP2   RIPK4   RRP1   RRP1B   RSPH1   SH3BGR   SIK1   SLC37A1   SNORA91   TFF1   TFF2   TFF3   TMPRSS2   TMPRSS3   TRAPPC10   U2AF1   UBASH3A   UMODL1   UMODL1-AS1   WDR4   ZBTB21   ZNF295-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_39375937)_(44246148_?)del
NC_000021.8:g.(?_40747863)_(45666031_?)del
NC_000021.7:g.(?_39669733)_(44490459_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382139,375,937 - 44,246,148CLINVAR
GRCh372140,747,863 - 45,666,031CLINVAR
Build 362139,669,733 - 44,490,459CLINVAR
Cytogenetic Map2121q22.2-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490248
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.