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Variant : CV305584 (NM_007214.5(SEC63):c.340-6_340-5dup) Homo sapiens

Symbol: CV305584
Name: NM_007214.5(SEC63):c.340-6_340-5dup
Condition: Congenital cystic disease of liver [RCV000387508]|Polycystic liver disease 1 [RCV000387508]|Polycystic liver disease [RCV000387508]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SEC63  
Variant Type: duplication (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.107921914_107921915dup
NC_000006.11:g.108243118_108243119dup
NM_007214.4:c.340-4_340-3dupCC
NM_007214.5:c.340-6_340-5dup
NG_008270.1:g.41366_41367dup
NM_007214.4:c.340-4_340-3dupCC
Position
Human AssemblyChrPosition (strand)Source
GRCh386107,921,912 - 107,921,913CLINVAR
GRCh376108,243,116 - 108,243,117CLINVAR
Cytogenetic Map66q21CLINVAR
Trait Synonyms: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11635716
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.