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Variant : CV41382 (GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3) Homo sapiens

Symbol: CV41382
Name: GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3
Condition: Abnormal facial shape [RCV000050454]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050455]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050455]|See cases [RCV000050454]
Clinical Significance: benign|conflicting interpretations of pathogenicity|conflicting data from submitters
Last Evaluated: 09/18/2013
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: BTBD17   C17orf77   CD300A   CD300C   CD300E   CD300H   CD300LB   CD300LD   DNAI2   GPR142   GPRC5C   KIF19   LINC02074   RPL38   TTYH2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_73851698)_(74610813_?)dup
NC_000017.10:g.(?_71847837)_(72606952_?)dup
NC_000017.9:g.(?_69359432)_(70118547_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381773,851,698 - 74,610,813CLINVAR
GRCh371771,847,837 - 72,606,952CLINVAR
Build 361769,359,432 - 70,118,547CLINVAR
Cytogenetic Map1717q25.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617657
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.