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Variant (rsID / SNP)

rs150429680

LARS1

rs150429680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LARS1. Location: chromosome 5, position 145,531,558. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LARS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:145531558
Cytoband
5q32
HGVS
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
Allele change
Missense_V404D

Associated conditions / phenotypes

Infantile liver failure syndrome 1

Public references

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