Unique variants in the APLN gene

Information The variants shown are described using the NM_017413.4 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? 1 - c.-1114T>G r.(?) p.(?) - VUS g.128789721A>C g.129655744A>C - - APLN_000014 1 more item - - rs3761581 Unknown - - - - - Luz Berenice Lopez-Hernandez
?/. 2 - c.-107T>C r.(?) p.(=) - VUS g.128788714A>G g.129654737A>G - - APLN_000011 - - - - Germline - - - - - Yu Sun
?/. 1 2 c.223A>G r.(?) p.(Met75Val) - VUS g.128782614T>C g.129648637T>C M75V - APLN_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 2 - c.*5+186G>C r.(=) p.(=) - VUS g.128782412C>G g.129648435C>G - - APLN_000009 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*36G>T r.(=) p.(=) - VUS g.128781864C>A g.129647887C>A - - APLN_000006 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*384G>A r.(=) p.(=) - VUS g.128781516C>T g.129647539C>T - - APLN_000003 - - - - Germline - - - - - Yu Sun
?/. 4 - c.*1721_*1723dup r.(=) p.(=) - VUS g.128780198_128780200dup g.129646221_129646223dup - - APLN_000001, APLN_000013 - - - - Germline - - - - - Yu Sun
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