Protein level identifier (NP_001073136):

p.Ala330Serfs*25

cDNA level identifier (NM_001079668):

c.978_1056delCGCGCAGGCGGCGGCAGCGGCCATCTCCGTGGGCAGCGGTGGCGCCGGCCTTGGCGCACACCCGGGCCACCAGCCAGGC

Gene level identifier:

g.3644_3722delCGCGCAGGCGGCGGCAGCGGCCATCTCCGTGGGCAGCGGTGGCGCCGGCCTTGGCGCACACCCGGGCCACCAGCCAGGC

Archive identifier/Other designation:

S330fsX24

Reference, alternative allele:

TGCCTGGCTGGTGGCCCGGGTGTGCGCCAAGGCCGGCGCCACCGCTGCCCACGGAGATGGCCGCTGCCGCCGCCTGCGCG, T

Genomic location hg(19)

14:36986632 (not available on ExAC)

Gene name:

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).