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Variant (rsID / SNP)

rs77010315

SLC36A2

rs77010315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC36A2. Location: chromosome 5, position 150,723,155. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC36A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:150723155
Cytoband
5q33.1
HGVS
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val)
Allele change
Missense_G87V

Associated conditions / phenotypes

Iminoglycinuria, digenic|Hyperglycinuria

Public references

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