Mutation details:

Protein level identifier (NP_075063):

p.Met1fs

cDNA level identifier (NM_022912):

c.-1_2delCAT

Gene level identifier:

g.573_575delCAT

Reference, alternative allele:

CATG, C

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).

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