Mutation details:

Protein level identifier (NP_001135811):

p.Pro102_Val104del

cDNA level identifier (NM_001142339):

c.304_312delCCTCCAGTT

Gene level identifier:

g.64901_64909delCCTCCAGTT

Reference, alternative allele:

ACCTCCAGTT, A

Genomic location hg(19)

18:11753854 (not available on ExAC)

Gene name:

GNAL

Consequence:

in frame indel

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Positive functional evidence:

30021154;

Number of all included cases:

1 heterozygous (1 in total).