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Variant : CV226998 (NM_007214.5(SEC63):c.452+1G>A) Homo sapiens

Symbol: CV226998
Name: NM_007214.5(SEC63):c.452+1G>A
Condition: Congenital cystic disease of liver [RCV000210666]|Polycystic liver disease 1 [RCV000210666]|not provided [RCV000788737]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 09/27/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: SEC63  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing|research
HGVS Name(s): NG_008270.1:g.41483G>A
NC_000006.12:g.107921796C>T
NC_000006.11:g.108243000C>T
NM_007214.5:c.452+1G>A
NM_007214.4:c.452+1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh386107,921,796 - 107,921,796CLINVAR
GRCh376108,243,000 - 108,243,000CLINVAR
Cytogenetic Map66q21CLINVAR
Trait Synonyms: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS
Age Of Onset: adult
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11060046
Created: 2016-04-19
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.