Home > Gene Browser > SLC36A1

SLC36A1

Synonyms
Dct1, LYAAT1, PAT1, TRAMD3
External resources
Summary
This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants.

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
17
Likely pathogenic
0
VUS
12,335
Likely benign
536
Benign
0

Patient phenotypes

Proportions of phenotypes among 16 patients carring pathogenic or likely pathogenic variants on SLC36A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
43.8%
Abnormality of the musculoskeletal system
37.5%
Abnormality of head or neck
31.3%
Abnormality of the nervous system
31.3%
Growth abnormality
18.8%
Abnormality of limbs
12.5%
Abnormality of prenatal development or birth
6.3%
Abnormality of the cardiovascular system
6.3%
Abnormality of the ear
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of the genitourinary system
6.3%
Abnormality of the immune system
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
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