All variants in the AANAT gene

Information The variants shown are described using the NM_001088.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

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     
?/. - c.*2009A>G r.(=) p.(=) - VUS g.74468061A>G g.76471979A>G RHBDF2(NM_024599.5):c.2225T>C (p.L742P) - AANAT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2701C>T r.(=) p.(=) - likely benign g.74468753C>T g.76472671C>T RHBDF2(NM_024599.5):c.2151+15G>A - RHBDF2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.*2709T>C r.(=) p.(=) - likely benign g.74468761T>C g.76472679T>C RHBDF2(NM_024599.5):c.2151+7A>G - RHBDF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.*2709T>C r.(=) p.(=) - likely benign g.74468761T>C - RHBDF2(NM_024599.5):c.2151+7A>G - RHBDF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*2711C>T r.(=) p.(=) - VUS g.74468763C>T - RHBDF2(NM_024599.5):c.2151+5G>A - AANAT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*3133C>T r.(=) p.(=) - benign g.74469185C>T g.76473103C>T RHBDF2(NM_024599.5):c.1899G>A (p.V633=) - RHBDF2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.*3133C>T r.(=) p.(=) - likely benign g.74469185C>T g.76473103C>T RHBDF2(NM_024599.5):c.1899G>A (p.V633=) - RHBDF2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.*3358C>T r.(=) p.(=) - pathogenic g.74469410C>T - RHBDF2(NM_024599.5):c.1821-1G>A - AANAT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*3727T>C r.(=) p.(=) - benign g.74469779T>C g.76473697T>C RHBDF2(NM_024599.5):c.1771A>G (p.M591V) - RHBDF2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.*3908G>A r.(=) p.(=) - benign g.74469960G>A - RHBDF2(NM_024599.5):c.1686C>T (p.S562=) - AANAT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.*3948A>T r.(=) p.(=) - benign g.74470000A>T g.76473918A>T RHBDF2(NM_024599.5):c.1662-16T>A - RHBDF2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.*4106C>T r.(=) p.(=) - likely benign g.74470158C>T g.76474076C>T RHBDF2(NM_024599.5):c.1618G>A (p.G540S) - AANAT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*4142C>A r.(=) p.(=) - likely benign g.74470194C>A g.76474112C>A RHBDF2(NM_001005498.3):c.1495G>T (p.(Asp499Tyr)), RHBDF2(NM_024599.5):c.1582G>T (p.D528Y) - RHBDF2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.*4142C>A r.(=) p.(=) - likely benign g.74470194C>A g.76474112C>A RHBDF2(NM_001005498.3):c.1495G>T (p.(Asp499Tyr)), RHBDF2(NM_024599.5):c.1582G>T (p.D528Y) - RHBDF2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*4142C>A r.(=) p.(=) - likely benign g.74470194C>A g.76474112C>A RHBDF2(NM_001005498.3):c.1495G>T (p.(Asp499Tyr)), RHBDF2(NM_024599.5):c.1582G>T (p.D528Y) - RHBDF2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*4151T>C r.(=) p.(=) - likely benign g.74470203T>C g.76474121T>C RHBDF2(NM_024599.5):c.1573A>G (p.K525E) - RHBDF2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*4471G>A r.(=) p.(=) - benign g.74470523G>A g.76474441G>A RHBDF2(NM_024599.5):c.1483C>T (p.R495W) - RHBDF2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.*4471G>A r.(=) p.(=) - likely benign g.74470523G>A g.76474441G>A RHBDF2(NM_024599.5):c.1483C>T (p.R495W) - RHBDF2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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