Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV300993 (NM_007214.5(SEC63):c.*396T>A) Homo sapiens

Symbol: CV300993
Name: NM_007214.5(SEC63):c.*396T>A
Condition: Congenital cystic disease of liver [RCV000404977]|Polycystic liver disease 1 [RCV000404977]|Polycystic liver disease [RCV000404977]
Clinical Significance: likely benign
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.91971T>A
NC_000006.12:g.107871308A>T
NC_000006.11:g.108192512A>T
NM_007214.5:c.*396T>A
NM_007214.4:c.*396T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh386107,871,308 - 107,871,308CLINVAR
GRCh376108,192,512 - 108,192,512CLINVAR
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: 11598401
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.