Home > Gene Browser > SLC7A10

SLC7A10

Synonyms
ASC1, HASC-1, asc-1
External resources
Summary
SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
4
Likely pathogenic
0
VUS
4,260
Likely benign
30
Benign
0

Patient Phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on SLC7A10 gene are displayed below. The following symptoms were found in patients with a variant in SLC7A10. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
75%
Abnormality of the musculoskeletal system
75%
Abnormality of the nervous system
75%
Abnormality of the eye
50%
Growth abnormality
50%
Abnormality of limbs
25%
Abnormality of metabolism homeostasis
25%
Abnormality of prenatal development or birth
25%
Abnormality of the cardiovascular system
25%
Abnormality of the digestive system
25%
Abnormality of the ear
25%
Abnormality of the immune system
25%
Abnormality of the integument
25%
Constitutional symptom
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.