Variants

Link to Pubmed

PubMed

Location

exon 2

DNA nomenclature

c.461_469del

RNA nomenclature

r.(461_469del)

Protein nomenclature

p.(Arg154_Thr156del)

Type of variant DNA

Deletion

Type of variant RNA

Deletion

Type of variant Protein

Deletion

ACMG classification

Likely pathogenic

Predicted severity

Potentially less severe

Phenotype with null allele

Unknown (disease-associated)

CRIM status

Positive

MAF

MAF not reported

RS number

Biochemical evidence of pathogenicity

0,5% residual activity and affects secretion & processing in expression study

Splicing and translation prediction

no effect on splicing - in frame product

Biochemical evidence of CRIM status

Prediction of CRIM status

protein is expressed

Missense prediction (Mutation Taster)

Missense prediction (SIFT)

Missense prediction (Align GVGD)

Number of patients