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Variant : CV305346 (NM_007214.5(SEC63):c.*3171G>C) Homo sapiens

Symbol: CV305346
Name: NM_007214.5(SEC63):c.*3171G>C
Condition: Congenital cystic disease of liver [RCV000267518]|Polycystic liver disease 1 [RCV000267518]|Polycystic liver disease [RCV000267518]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SEC63  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_008270.1:g.94746G>C
NC_000006.12:g.107868533C>G
NC_000006.11:g.108189737C>G
NM_007214.5:c.*3171G>C
NM_007214.4:c.*3171G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh386107,868,533 - 107,868,533CLINVAR
GRCh376108,189,737 - 108,189,737CLINVAR
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: 11599650
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.