| Demographic Data |
| Relation to Proband |
mother |
| Age at Sampling |
38 YR |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SANGER SEQUENCING REVEALED THIS INDIVIDUAL IS HETEROZYGOUS FOR THE C.1475T>C (P.L492P) IN EXON 11 OF THE SLC13A5 GENE |
| Zygosity: |
Heterozygous
Notes: CLINICALLY UNAFFECTED MOTHER OF 2 AFFECTED CHILDREN; BOTH CHILDREN (GM27288 & GM27289) ARE COMPOUND HETEROZYGOUS FOR TWO VARIANTS IN THE SLC13A5 GENE: SLC13A5 C.655G>A (P.G219R) EXON 5; SLC13A5 C.1475T>C (P.L492P) EXON 11 |
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| Additional Information |
| Testing Performed |
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