All transcript variants in gene LDHAL6B

Information The variants shown are described using the NM_033195.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-70277T>C benign r.(?) p.(=) g.59428863T>C - MYO1E(NM_004998.3):c.*716A>G - MYO1E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-69575G>C benign r.(?) p.(=) g.59429565G>C - MYO1E(NM_004998.3):c.*14C>G - MYO1E_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-68827C>A benign r.(?) p.(=) g.59430313C>A - MYO1E(NM_004998.3):c.3250+84G>T - MYO1E_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-45996G>A benign r.(?) p.(=) g.59453144G>A - MYO1E(NM_004998.3):c.2785+128C>T - MYO1E_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-45761C>T VUS r.(?) p.(=) g.59453379C>T - MYO1E(NM_004998.3):c.2678G>A (p.Gly893Asp) - MYO1E_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-43784G>C benign r.(?) p.(=) g.59455356G>C - MYO1E(NM_004998.3):c.2627C>G (p.T876R) - MYO1E_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.-43702A>G likely pathogenic r.(?) p.(=) g.59455438A>G - MYO1E(NM_004998.3):c.2545T>C (p.(Phe849Leu)) - MYO1E_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-33357T>C benign r.(?) p.(=) g.59465783T>C - MYO1E(NM_004998.3):c.2334+162A>G - MYO1E_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-4522G>C benign r.(?) p.(=) g.59494618G>C - MYO1E(NM_004998.3):c.1617-12C>G - MYO1E_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-1540G>T likely benign r.(?) p.(=) g.59497600G>T - MYO1E(NM_004998.3):c.1615C>A (p.L539M) - MYO1E_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.989A>G likely benign r.(?) p.(Tyr330Cys) g.59500128A>G - LDHAL6B(NM_033195.2):c.989A>G (p.(Tyr330Cys)) - LDHAL6B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1041C>G likely benign r.(?) p.(Asn347Lys) g.59500180C>G - LDHAL6B(NM_033195.2):c.1041C>G (p.(Asn347Lys)) - LDHAL6B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*676C>T benign r.(=) p.(=) g.59500961C>T - MYO1E(NM_004998.3):c.1449G>A (p.Q483=) - MYO1E_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*685C>T benign r.(=) p.(=) g.59500970C>T - MYO1E(NM_004998.3):c.1440G>A (p.=) - MYO1E_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*9904G>A benign r.(=) p.(=) g.59510189G>A - MYO1E(NM_004998.3):c.1008C>T (p.=) - MYO1E_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*16513C>G benign r.(=) p.(=) g.59516798C>G - MYO1E(NM_004998.3):c.777+90G>C - MYO1E_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*16590C>T benign r.(=) p.(=) g.59516875C>T - MYO1E(NM_004998.3):c.777+13G>A (p.?) - MYO1E_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*16836T>A benign r.(=) p.(=) g.59517121T>A - MYO1E(NM_004998.3):c.643-99A>T - MYO1E_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*19427T>C VUS r.(=) p.(=) g.59519712T>C - MYO1E(NM_004998.3):c.588A>G (p.=) - MYO1E_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*23703G>A likely benign r.(=) p.(=) g.59523988G>A - MYO1E(NM_004998.3):c.423C>T (p.H141=) - MYO1E_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*28720del benign r.(?) p.(=) g.59529005del - MYO1E(NM_004998.3):c.333-124delA - MYO1E_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*48190C>T benign r.(=) p.(=) g.59548475C>T - MYO1E(NM_004998.3):c.332+8G>A (p.?) - MYO1E_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*48190C>T benign r.(=) p.(=) g.59548475C>T - MYO1E(NM_004998.3):c.332+8G>A (p.?) - MYO1E_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.*64251A>G VUS r.(=) p.(=) g.59564536A>G - MYO1E(NM_004998.3):c.116T>C (p.Leu39Pro) - MYO1E_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*64269T>C benign r.(=) p.(=) g.59564554T>C - MYO1E(NM_004998.3):c.98A>G (p.N33S) - LDHAL6B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*64354C>T VUS r.(=) p.(=) g.59564639C>T - MYO1E(NM_004998.3):c.13G>A (p.G5S) - MYO1E_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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