Variant (rsID / SNP)

rs2228622

rs2228622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC1A1. Location: chromosome 9, position 4,564,432. Clinical significance in the table: Benign.

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Reference-table entries

SLC1A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:4564432
Cytoband: 9p24.2
HGVS: NM_004170.6(SLC1A1):c.414G>A (p.Thr138=)
Allele change: Synonymous_T138T

Associated conditions / phenotypes

Dicarboxylic aminoaciduria

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.