Mutation details:

Protein level identifier (NP_003681):

p.Cys213Arg

cDNA level identifier (NM_003690):

c.637T>C

Gene level identifier:

g.15221T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

2:179301019 (not available on ExAC)

Gene name:

PRKRA

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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