Project HERA

ATRX variants

Every ATRX variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

7 variants

ATRX variants

Newest first. Each row opens the full report, criterion by criterion.

7 shown

Variant

Protein change

Classification

ATRX NM_000489.5:c.4231G>T

NP_000480.3:p.(E1411*)

Likely Pathogenic

ATRX NM_000489.5:c.4699+2T>C

NP_000480.3:p.?

Likely Pathogenic

ATRX NM_000489.5:c.371-1G>A

NP_000480.3:p.?

ATRX NM_000489.5:c.4434_4435del

NP_000480.3:p.(K1479Nfs*6)

ATRX NM_000489.5:c.3334A>G

NP_000480.3:p.(T1112A)

ATRX NM_000489.5:c.7315C>A

NP_000480.3:p.(P2439T)

ATRX NM_000489.5:c.5698-1G>C

NP_000480.3:p.?

Likely Pathogenic