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Variant : CV162205 (GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1) Homo sapiens

Symbol: CV162205
Name: GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1
Condition: See cases [RCV000140995]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: A4GNT   ACAD11   ACKR4   ACP3   ALG1L2   AMOTL2   ANAPC13   ARMC8   ASTE1   ATP2C1   BFSP2   BFSP2-AS1   BPESC1   C3orf36   CDV3   CEP63   CEP70   CLDN18   CLSTN2   CLSTN2-AS1   COL6A5   COL6A6   COPB2   CPNE4   DBR1   DNAJC13   DZIP1L   EPHB1   ESYT3   FAIM   FOXL2   FOXL2NB   IL20RB   IL20RB-AS1   KY   LINC01210   LINC01391   LINC02000   LINC02004   LINC02014   LINC02021   MIR4788   MIR5704   MIR6827   MRAS   MRPL3   MRPS22   MSL2   NCK1   NCK1-DT   NEK11   NME9   NMNAT3   NPHP3   NPHP3-ACAD11   NPHP3-AS1   NUDT16   PCCB   PIK3CB   PIK3R4   PISRT1   PPP2R3A   PRR23A   PRR23B   PRR23C   PXYLP1   RAB6B   RBP1   RBP2   RYK   SLC25A36   SLC35G2   SLCO2A1   SNORA58   SOX14   SPSB4   SRPRB   STAG1   TF   TMCC1   TMCC1-AS1   TMEM108   TMEM108-AS1   TOPBP1   TRC-GCA6-1   TRC-GCA9-1   TRH   TRIM42   UBA5   ZBTB38  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_129817243)_(141425155_?)del
NC_000003.11:g.(?_129536086)_(141143997_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383129,817,243 - 141,425,155CLINVAR
GRCh373129,536,086 - 141,143,997CLINVAR
Build 363131,018,776 - 142,626,687CLINVAR
Cytogenetic Map33q22.1-23CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488523
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.