All transcript variants in gene C11orf94

Information The variants shown are described using the NM_001080446.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.-3004C>A benign r.(?) p.(=) g.45931800G>T - PEX16(NM_004813.2):c.*5C>A - C11orf94_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-2944T>C benign r.(?) p.(=) g.45931740A>G - PEX16(NM_004813.2):c.*65T>C - C11orf94_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-2939C>G VUS r.(?) p.(=) g.45931735G>C - PEX16(NM_004813.2):c.*70C>G (p.(=)) - C11orf94_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-2851A>C benign r.(?) p.(=) g.45931647T>G - PEX16(NM_057174.2):c.1034A>C (p.H345P) - C11orf94_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-2851A>C likely benign r.(?) p.(=) g.45931647T>G - PEX16(NM_057174.2):c.1034A>C (p.H345P) - C11orf94_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-2850C>T likely benign r.(?) p.(=) g.45931646G>A - PEX16(NM_057174.2):c.1035C>T (p.=) - C11orf94_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-2834C>A likely benign r.(?) p.(=) g.45931630G>T - PEX16(NM_004813.2):c.*175C>A - C11orf94_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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