Variant (rsID / SNP)

rs142281464

rs142281464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A19. Location: chromosome 17, position 73,274,393. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC25A19Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:73274393
Cytoband: 17q25.1
HGVS: NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=)
Allele change: Synonymous_A161A

Associated conditions / phenotypes

Amish lethal microcephaly

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.