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Variant : CV74974 (GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1) Homo sapiens

Symbol: CV74974
Name: GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1
Condition: Low-set ears [RCV000054261]|See cases [RCV000054261]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ATP6V0D2   C8orf88   CA1   CA13   CA2   CA3   CA3-AS1   CALB1   CHMP4C   CNBD1   CNGB3   CPNE3   DCAF4L2   DECR1   E2F5   FABP12   FABP4   FABP5   FABP9   HEY1   IL7   IMPA1   LINC00534   LINC01030   LINC01419   LINC01607   LINC02605   LINC02839   LRRC69   LRRCC1   MIR12123   MIR4661   MIR5708   MMP16   MRPS28   NBN   NECAB1   OSGIN2   OTUD6B   OTUD6B-AS1   PAG1   PIP4P2   PKIA   PKIA-AS1   PMP2   PSKH2   RALYL   RBIS   RIPK2   RMDN1   SLC10A5   SLC26A7   SLC7A13   SNX16   STMN2   TMEM64   TPD52   WWP1   ZBTB10   ZC2HC1A   ZFAND1   ZNF704  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_77765431)_(91839285_?)del
NC_000008.10:g.(?_78677666)_(92851513_?)del
NC_000008.9:g.(?_78840221)_(92920689_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38877,765,431 - 91,839,285CLINVAR
GRCh37878,677,666 - 92,851,513CLINVAR
Build 36878,840,221 - 92,920,689CLINVAR
Cytogenetic Map88q21.13-21.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621168
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.