Variant (rsID / SNP)

rs80338722

rs80338722 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A13. Location: chromosome 7, position 95,813,588. 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: 7:95813588
Cytoband: 7q21.3
HGVS: NM_014251.3(SLC25A13):c.1177+1G>A
Allele change: Silent

Associated conditions / phenotypes

Citrullinemia type II|Neonatal intrahepatic cholestasis due to citrin deficiency|Citrin deficiency|Late-onset citrullinemia|Citrullinemia, type II, adult-onset

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.