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)     

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.-70277T>C r.(?) p.(=) - benign g.59428863T>C g.59136664T>C MYO1E(NM_004998.3):c.*716A>G - MYO1E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-69575G>C r.(?) p.(=) - benign g.59429565G>C g.59137366G>C MYO1E(NM_004998.3):c.*14C>G - MYO1E_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-68827C>A r.(?) p.(=) - benign g.59430313C>A g.59138114C>A MYO1E(NM_004998.3):c.3250+84G>T - MYO1E_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-45996G>A r.(?) p.(=) - benign g.59453144G>A g.59160945G>A MYO1E(NM_004998.3):c.2785+128C>T - MYO1E_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.-45761C>T r.(?) p.(=) - VUS g.59453379C>T g.59161180C>T - - MYO1E_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.-43784G>C r.(?) p.(=) - benign g.59455356G>C g.59163157G>C MYO1E(NM_004998.3):c.2627C>G (p.T876R) - MYO1E_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-33357T>C r.(?) p.(=) - benign g.59465783T>C g.59173584T>C MYO1E(NM_004998.3):c.2334+162A>G - MYO1E_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-4522G>C r.(?) p.(=) - benign g.59494618G>C g.59202419G>C MYO1E(NM_004998.3):c.1617-12C>G - MYO1E_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.-1540G>T r.(?) p.(=) - likely benign g.59497600G>T g.59205401G>T MYO1E(NM_004998.3):c.1615C>A (p.L539M) - MYO1E_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1041C>G r.(?) p.(Asn347Lys) - VUS g.59500180C>G g.59207981C>G LDHAL6B(NM_033195.2):c.1041C>G (p.(Asn347Lys)) - LDHAL6B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1047T>C r.(?) p.(Ile349=) - VUS g.59500186T>C g.59207987T>C LDHAL6B(NM_033195.2):c.1047T>C (p.(=)) - LDHAL6B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1083A>G r.(?) p.(Glu361=) - VUS g.59500222A>G g.59208023A>G LDHAL6B(NM_033195.2):c.1083A>G (p.(=)) - LDHAL6B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*676C>T r.(=) - - benign g.59500961C>T g.59208762C>T MYO1E(NM_004998.3):c.1449G>A (p.Q483=) - MYO1E_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*685C>T r.(=) - - benign g.59500970C>T g.59208771C>T - - MYO1E_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.*9904G>A r.(=) - - benign g.59510189G>A g.59217990G>A - - MYO1E_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.*16513C>G r.(=) p.(=) - benign g.59516798C>G g.59224599C>G MYO1E(NM_004998.3):c.777+90G>C - MYO1E_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*16590C>T r.(=) p.(=) - benign g.59516875C>T g.59224676C>T - - MYO1E_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.*16836T>A r.(=) p.(=) - benign g.59517121T>A g.59224922T>A MYO1E(NM_004998.3):c.643-99A>T - MYO1E_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.*19427T>C r.(=) - - VUS g.59519712T>C g.59227513T>C - - MYO1E_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*23703G>A r.(=) - - likely benign g.59523988G>A g.59231789G>A MYO1E(NM_004998.3):c.423C>T (p.H141=) - MYO1E_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*28720del r.(?) p.(=) - benign g.59529005del g.59236806del MYO1E(NM_004998.3):c.333-124delA - MYO1E_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*48190C>T r.(=) p.(=) - benign g.59548475C>T g.59256276C>T MYO1E(NM_004998.3):c.332+8G>A - MYO1E_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*48190C>T r.(=) p.(=) - benign g.59548475C>T g.59256276C>T MYO1E(NM_004998.3):c.332+8G>A - MYO1E_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.*64251A>G r.(=) p.(=) - VUS g.59564536A>G g.59272337A>G - - MYO1E_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.*64269T>C r.(=) p.(=) - benign g.59564554T>C g.59272355T>C MYO1E(NM_004998.3):c.98A>G (p.N33S) - LDHAL6B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*64354C>T r.(=) p.(=) - VUS g.59564639C>T g.59272440C>T MYO1E(NM_004998.3):c.13G>A (p.G5S) - MYO1E_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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