Deletion/Duplication Quiz

Do null alleles cause disease? (Check ClinVar, OMIM, HGMD, ClinGen for reported null alleles and LOF classification)

Yes

Possibly

Does this deletion/duplication cause a frameshift leading to a down stream stop or a stop codon at the insertion/deletion point?

Yes

Does this del/dup cause a frameshift leading to a down stream stop or a stop codon at the insertion/deletion point?

Yes

Does this deletion/duplication occur at a critical region?

Yes

Where does the stop caused by this deletion/duplication occur in the gene?

First 1/3 of the gene

Last exon, or 50 nucleotides from the end of second to last exon

After first 1/3 but before the last 50 nucleotides from the end of the second to last exon

Where does the stop caused by this del dup occur in the gene?

First 1/3 of the gene

Last exon, or 50 nucleotides from the end of the last exon

After the first 1/3 but before the last 50 nucleotides from the end of the second to last exon

Check for null alleles reported 5' of this del/dup - what did you find?

No published null alleles 5' of this del/dup

A published pathogenic null allele that is 5' of this del/dup

A published benign null allele that is 5' of this del/dup or a null allele with high population frequency that is 5' of this del dup

Check for null alleles reported 5' of this deletion/duplication - what did you find?

No published null alleles 5' of this del/dup

A published pathogenic null allele that is 5' of this del/dup

A published benign null allele that is 5' of this del/dup or a null allele with high population frequency that is 5' of this del dup

Is there a null allele published 3' of this deletion/duplication or does this null allele cause loss of a critical region?

Yes

Is there a null allele published 3' of this del/dup or does this null allele cause loss of a critical region?

Yes

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