Full data view for gene C11orf94

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

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-3684C>T r.(?) p.(=) Unknown - likely benign g.45932480G>A - PEX16(NM_057174.2):c.921C>T (p.A307=) - C11orf94_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3004C>A r.(?) p.(=) Unknown - benign g.45931800G>T g.45910249G>T PEX16(NM_004813.3):c.*5C>A - C11orf94_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2944T>C r.(?) p.(=) Unknown - benign g.45931740A>G g.45910189A>G PEX16(NM_004813.3):c.*65T>C - C11orf94_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2939C>G r.(?) p.(=) Unknown - VUS g.45931735G>C g.45910184G>C PEX16(NM_004813.2):c.*70C>G (p.(=)) - C11orf94_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2851A>C r.(?) p.(=) Unknown - benign g.45931647T>G g.45910096T>G PEX16(NM_057174.2):c.1034A>C (p.H345P) - C11orf94_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2850C>T r.(?) p.(=) Unknown - likely benign g.45931646G>A g.45910095G>A PEX16(NM_057174.2):c.1035C>T (p.H345=) - C11orf94_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2850C>T r.(?) p.(=) Unknown - likely benign g.45931646G>A g.45910095G>A PEX16(NM_057174.2):c.1035C>T (p.H345=) - C11orf94_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2834C>A r.(?) p.(=) Unknown - likely benign g.45931630G>T g.45910079G>T PEX16(NM_004813.3):c.*175C>A - C11orf94_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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