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Variant : CV153988 (GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1) Homo sapiens

Symbol: CV153988
Name: GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1
Condition: See cases [RCV000133719]
Clinical Significance: pathogenic
Last Evaluated: 05/27/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CASC9   CRISPLD1   FABP5   HEY1   HNF4G   IL7   LINC01111   LINC01607   LINC02605   MIR12123   MIR3149   MIR5708   MRPS28   PAG1   PEX2   PKIA   PKIA-AS1   STMN2   TPD52   ZBTB10   ZC2HC1A   ZFHX4   ZFHX4-AS1   ZNF704  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_74905308)_(81339951_?)del
NC_000008.10:g.(?_75817543)_(82252186_?)del
NC_000008.9:g.(?_75980098)_(82414741_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38874,905,308 - 81,339,951CLINVAR
GRCh37875,817,543 - 82,252,186CLINVAR
Build 36875,980,098 - 82,414,741CLINVAR
Cytogenetic Map88q21.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481304
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.