Variant (rsID / SNP)

rs75622628

rs75622628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A13. Location: chromosome 7, position 95,751,283. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC25A13Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:95751283
Cytoband: 7q21.3
HGVS: NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser)
Allele change: Missense_P540S

Associated conditions / phenotypes

Citrin deficiency|Citrullinemia

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.