Protein level identifier (NP_061183):

Ala166Glnfs*7

cDNA level identifier (NM_018713):

c.496_553delGCTTTCGGGGGGCCTCAGGGCGCGGAGGACCCGCGGCGCGCGGCGGACCCGACAGCCC

Gene level identifier:

g.30703_30760delGCTTTCGGGGGGCCTCAGGGCGCGGAGGACCCGCGGCGCGCGGCGGACCCGACAGCCC

Reference, alternative allele:

GGGGCTGTCGGGTCCGCCGCGCGCCGCGGGTCCTCCGCGCCCTGAGGCCCCCCGAAAGC, G

Genomic location hg(19)

1:220101229 (not available on ExAC)

Gene name:

Consequence:

frameshift

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).