Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV154485 (GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1) Homo sapiens

Symbol: CV154485
Name: GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1
Condition: See cases [RCV000134154]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCD4   ACOT1   ACOT2   ACOT4   ACOT6   ACYP1   ADAM20   ADAM21   ADCK1   AHSA1   ALDH6A1   ALKBH1   ANGEL1   AREL1   BATF   BBOF1   C14orf178   CCDC177   CEP128   CIPC   COQ6   COX16   DCAF4   DIO2   DIO2-AS1   DLST   DNAL1   DPF3   EIF2B2   ENTPD5   ERG28   ESRRB   FAM161B   FCF1   FLVCR2   FOS   GPATCH2L   GSTZ1   GTF2A1   HEATR4   IFT43   IRF2BPL   ISCA2   ISM2   JDP2   LIN52   LINC01220   LINC01269   LINC01467   LINC01629   LINC02274   LINC02288   LINC02289   LINC02308   LINC02311   LRRC74A   LTBP2   MAP3K9   MED6   MIDEAS   MIR1260A   MIR4505   MIR4709   MIR7843   MLH3   NEK9   NGB   NOXRED1   NPC2   NRXN3   NUMB   PAPLN   PCNX1   PGF   PNMA1   POMT2   PROX2   PSEN1   PTGR2   RBM25   RGS6   RIOX1   RPS6KL1   SAMD15   SEL1L   SIPA1L1   SLC10A1   SLC8A3   SLIRP   SMOC1   SNORA79   SNORD169   SNORD56B   SNW1   SPTLC2   SRSF5   STON2   SUSD6   SYNDIG1L   SYNJ2BP   SYNJ2BP-COX16   TGFB3   TMED10   TMED8   TMEM63C   TRC-GCA8-1   TSHR   TTC9   TTLL5   VASH1   VASH1-AS1   VIPAS39   VRTN   VSX2   YLPM1   ZC2HC1C   ZDHHC22   ZFYVE1   ZNF410  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_69562099)_(81975384_?)del
NC_000014.8:g.(?_70028816)_(82441728_?)del
NC_000014.7:g.(?_69098569)_(81511481_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381469,562,099 - 81,975,384CLINVAR
GRCh371470,028,816 - 82,441,728CLINVAR
Build 361469,098,569 - 81,511,481CLINVAR
Cytogenetic Map1414q24.1-31.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481734
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.