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Variant : CV298597 (NM_007214.5(SEC63):c.*1927_*1932del) Homo sapiens

Symbol: CV298597
Name: NM_007214.5(SEC63):c.*1927_*1932del
Condition: Congenital cystic disease of liver [RCV000391422]|Polycystic liver disease 1 [RCV000391422]|Polycystic liver disease [RCV000391422]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SEC63  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_007214.5:c.*1927_*1932del
NG_008270.1:g.93502_93507del
NC_000006.12:g.107869772_107869777del
NC_000006.11:g.108190976_108190981del
NM_007214.4:c.*1927_*1932delAAAAAC
Position
Human AssemblyChrPosition (strand)Source
GRCh386107,869,772 - 107,869,777CLINVAR
GRCh376108,190,976 - 108,190,981CLINVAR
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: 11597207
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.