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Variant : CV305509 (NM_007214.5(SEC63):c.*1932_*1933insA) Homo sapiens

Symbol: CV305509
Name: NM_007214.5(SEC63):c.*1932_*1933insA
Condition: Congenital cystic disease of liver [RCV000335690]|Polycystic liver disease 1 [RCV000335690]|Polycystic liver disease [RCV000335690]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SEC63  
Variant Type: insertion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_007214.4:c.*1932_*1933insA
NG_008270.1:g.93507_93508insA
NC_000006.12:g.107869771_107869772insT
NC_000006.11:g.108190975_108190976insT
NM_007214.5:c.*1932_*1933insA
Position
Human AssemblyChrPosition (strand)Source
GRCh386107,869,771 - 107,869,772CLINVAR
GRCh376108,190,975 - 108,190,976CLINVAR
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: 11656736
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.