Protein level identifier (NP_061183):

p.Val98_Phe134del

cDNA level identifier (NM_018713):

c.292_402delGTGGAGGCCGTGCTGCGCCTGGCCCGGCCCGAGCGCATCGATGACCCCGAGCTGGTGCTCATCGTCGGCGTCCTGGGGCTGTTGGTCAACGTGGTGGGGCTGCTCATCTTC

Gene level identifier:

g.30499_30609delGTGGAGGCCGTGCTGCGCCTGGCCCGGCCCGAGCGCATCGATGACCCCGAGCTGGTGCTCATCGTCGGCGTCCTGGGGCTGTTGGTCAACGTGGTGGGGCTGCTCATCTTC

Reference, alternative allele:

GGAAGATGAGCAGCCCCACCACGTTGACCAACAGCCCCAGGACGCCGACGATGAGCACCAGCTCGGGGTCATCGATGCGCTCGGGCCGGGCCAGGCGCAGCACGGCCTCCAC, G

Genomic location hg(19)

1:220101380 (not available on ExAC)

Gene name:

Consequence:

in frame indel

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).