Mutation details:

Protein level identifier (NP_000104):

p.Lys275Glu

cDNA level identifier (NM_000113):

c.823A>G

Gene level identifier:

g.9987A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

9:132576427

Gene name:

TOR1A

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

24

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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