Transcript #00014997

Transcript name transcript variant 1
Gene name OCLN (occludin)
Chromosome 5
Transcript - NCBI ID NM_002538.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002529.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

23 entries on 1 page. Showing entries 1 - 23.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-294G>A benign r.(?) p.(=)
?/. - c.70C>G VUS r.(?) p.(Pro24Ala)
+?/. - c.173_194del ACMG: 4 r.(?) p.(Trp58Phefs*10)
?/. - c.412A>C VUS r.(?) p.(Lys138Gln)
?/. - c.412A>C VUS r.(?) p.(Lys138Gln)
-?/. - c.452C>T likely benign r.(?) p.(Ala151Val)
-?/. - c.456G>A likely benign r.(?) p.(=)
-?/. - c.469G>A likely benign r.(?) p.(Val157Ile)
?/. - c.606G>T VUS r.(?) p.(Gln202His)
?/. - c.671C>G VUS r.(?) p.(Ala224Gly)
-/. - c.699G>A benign r.(?) p.(=)
?/. - c.892-11G>A VUS r.(=) p.(=)
-?/. - c.921C>T likely benign r.(?) p.(=)
-/. - c.922G>C benign r.(?) p.(Val308Leu)
?/. - c.937T>A VUS r.(?) p.(Ser313Thr)
+/. - c.1037+1G>A pathogenic r.spl? p.?
?/. - c.1073C>T VUS r.(?) p.(Ser358Leu)
-?/. - c.1132T>C likely benign r.(?) p.(Ser378Pro)
-?/. - c.1215C>T likely benign r.(?) p.(=)
-/. - c.1512G>C benign r.(?) p.(Lys504Asn)
?/. - c.1512G>C VUS r.(?) p.(Lys504Asn)
-?/. - c.1512G>C likely benign r.(?) p.(Lys504Asn)
?/. - c.1530C>G VUS r.(?) p.(Ile510Met)
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