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Variant : CV305585 (NM_007214.5(SEC63):c.230T>C (p.Ile77Thr)) Homo sapiens

Symbol: CV305585
Name: NM_007214.5(SEC63):c.230T>C (p.Ile77Thr)
Condition: Congenital cystic disease of liver [RCV000363330]|Polycystic liver disease 1 [RCV000363330]|Polycystic liver disease [RCV000363330]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SEC63  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_008270.1:g.38352T>C
NC_000006.12:g.107924927A>G
NC_000006.11:g.108246131A>G
NP_009145.1:p.Ile77Thr
NM_007214.5:c.230T>C
NM_007214.4:c.230T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh386107,924,927 - 107,924,927CLINVAR
GRCh376108,246,131 - 108,246,131CLINVAR
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: 11609039
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.