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Variant : CV536084 (GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1) Homo sapiens

Symbol: CV536084
Name: GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1
Condition: Split-hand/foot malformation 1 [RCV000656540]
Clinical Significance: pathogenic
Last Evaluated: 09/28/2015
Review Status: criteria provided, single submitter
Related Genes: ARPC1A   ARPC1B   ASB4   ASNS   ATP5MF   ATP5MF-PTCD1   AZGP1   BAIAP2L1   BET1   BHLHA15   BRI3   BUD31   CALCR   CASD1   CDK6   COL1A2   COPS6   CPSF4   CYP3A4   CYP3A43   CYP3A5   CYP3A7   DLX5   DLX6   DYNC1I1   FAM200A   GJC3   GNG11   GNGT1   HEPACAM2   KPNA7   LMTK2   MIR489   NPTX2   OCM2   OR2AE1   PDAP1   PDK4   PEG10   PON1   PON2   PON3   PPP1R9A   PTCD1   SAMD9   SAMD9L   SDHAF3   SEM1   SGCE   SLC25A13   SMURF1   TAC1   TECPR1   TFPI2   TMEM130   TRIM4   TRRAP   VPS50   ZKSCAN1   ZKSCAN5   ZNF3   ZNF394   ZNF655   ZNF789   ZSCAN21   ZSCAN25  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37792,445,452 - 99,686,985CLINVAR
Cytogenetic Map77q21.2-22.1CLINVAR
Trait Synonyms: SPLIT-HAND DEFORMITY; SPLIT-HAND/FOOT DEFORMITY 1; SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13674128
Created: 2018-07-10
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.