Protein level identifier (n.a.):

p.Met1?

cDNA level identifier (n.a.):

c.1A>T

Gene level identifier:

g.104A>T

Archive identifier/Other designation:

c.102A>T

Reference, alternative allele:

T, A

Genomic location hg(19)

6:163148700 (not available on ExAC)

Gene name:

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 2 compound heterozygous (3 in total).