Annotation Detail

Information

Associated Genes: G6PD
Associated Variants: G6PD p.Ser188Phe (p.S188F) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Ser188Phe (p.S188F) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
Source Database: ClinVar
Description: NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND G6PD MEDITERRANEAN
ClinVar Allele ID: 25407
ClinVar RefSeq Alternation Syntax: NM_001042351.3:c.563C>T
ClinVar RefSeq Alternation Syntax: NM_000402.4:c.653C>T
ClinVar RefSeq Alternation Syntax: NM_001360016.2:c.563C>T
Clinical Significance Description: other
Clinical Significance Last Update: 2018-05-11
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000011086
Observed Origin Sample: germline
Pubmed: 12768444
Pubmed: 6698555
Pubmed: 1972698
Pubmed: 9342374
Pubmed: 14278484
Pubmed: 7203486
Pubmed: 4974311
Pubmed: 5305539
Pubmed: 1551674
Pubmed: 11445808
Pubmed: 1978555
Pubmed: 2503817
Pubmed: 5369703

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