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Variant : CV164329 (GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1) Homo sapiens

Symbol: CV164329
Name: GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1
Condition: See cases [RCV000142642]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALKAL1   ATP6V1H   BPNT2   CERNA3   CHCHD7   LINC00588   LINC00968   LINC01606   LYN   LYPLA1   MOS   MRPL15   NPBWR1   OPRK1   PCMTD1   PENK   PLAG1   PXDNL   RB1CC1   RGS20   RNU105C   RP1   RPS20   SDR16C5   SNORA1B   SNORD54   SNTG1   SOX17   ST18   TCEA1   TGS1   TMEM68   XKR4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_49471778)_(57825470_?)del
Human AssemblyChrPosition (strand)Source
GRCh38849,471,778 - 57,825,470CLINVAR
GRCh37850,384,337 - 58,738,029CLINVAR
Build 36850,546,890 - 58,900,583CLINVAR
Cytogenetic Map88q11.21-12.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490240
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


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