Variant (rsID / SNP)

rs80338729

rs80338729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A13. Location: chromosome 7, position 95,750,995. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC25A13Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:95750995
Cytoband: 7q21.3
HGVS: NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)
Allele change: Nonsense_R605X

Associated conditions / phenotypes

Neonatal intrahepatic cholestasis due to citrin deficiency

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.