All transcript variants in gene CEP85L

Information The variants shown are described using the NM_001042475.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ c.1020+6492A>C p.(=) - - - - r.(=) - subst g.118880200T>G - 5.570 - CEP85L_000002 rs111033560 - ; clinvar; 12639993;21167350;23861362;17655857 - - LOVD
?/? c.1020+6569_1020+6571del p.(=) - - - - r.(=) - del g.118880121_118880123del - - - CEP85L_000001 rs397516784 - ; 17010801;19324307;16432188;22155237;22427649;22707725;22820313;23785128 - - LOVD
+/+ c.1020+6583G>A p.(=) - - - - r.(=) - subst g.118880109C>T - 4.840 - CEP85L_000003 rs111033559 - ; clinvar; 12610310;19139388;21282613;23308118;18056057;22427649;22707725 - - LOVD
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