Variants

Link to Pubmed

PubMed

Location

intron 1B

DNA nomenclature

c.-32-1G>C

RNA nomenclature

r.spl

Protein nomenclature

p.?

Type of variant DNA

Substitution

Type of variant RNA

Substitution/ Splicing (splice acceptor site)

Type of variant Protein

No category

ACMG classification

Pathogenic

Predicted severity

very severe

Phenotype with null allele

Unknown (disease-associated)

CRIM status

Unknown

MAF

MAF not reported

RS number

Biochemical evidence of pathogenicity

Splicing and translation prediction

loss of exon 2 splice acceptor and generation of a cryptic splice acceptor site

Biochemical evidence of CRIM status

Prediction of CRIM status

unknown

Missense prediction (Mutation Taster)

Missense prediction (SIFT)

Missense prediction (Align GVGD)

Number of patients