Full data view for gene C14orf142

Information The variants shown are described using the NM_032490.4 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.-20040G>A r.(?) p.(=) Unknown - benign g.93693422C>T g.93227076C>T UBR7(NR_038150.2):n.1221C>T - UBR7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13207G>A r.(?) p.(=) Unknown - likely benign g.93686589C>T g.93220243C>T UBR7(NM_175748.3):c.961-6C>T (p.(=)) - C14orf142_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13206G>A r.(?) p.(=) Unknown - likely benign g.93686588C>T g.93220242C>T UBR7(NM_175748.3):c.961-7C>T (p.(=)) - C14orf142_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-13188_-13187del r.(?) p.(=) Unknown - benign g.93686585_93686586del g.93220239_93220240del UBR7(NM_175748.4):c.961-10_961-9delTT - UBR7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8231G>A r.(?) p.(=) Unknown - VUS g.93681613C>T - UBR7(NM_175748.4):c.587C>T (p.(Ala196Val)) - C14orf142_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2923A>G r.(?) p.(=) Unknown - VUS g.93676305T>C g.93209959T>C - - UBR7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-394G>T r.(?) p.(=) Unknown - VUS g.93673776C>A g.93207431C>A UBR7(NM_175748.3):c.140C>A (p.S47Y) - C14orf142_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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