Protein level identifier (NP_000152):

p.Phe138Glufs*23

cDNA level identifier (NM_000161):

c.410_446delTGTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGT

Gene level identifier:

g.37483_37519delTGTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGT

Reference, alternative allele:

AACAAATGGAACCAAGTGATGCTCACACATGGAAAACA, A

Genomic location hg(0)

14:55332051 (not available on ExAC)

Gene name:

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).