Variant (rsID / SNP)

rs144334794

rs144334794 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRPL44. Location: chromosome 2, position 224,828,547. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MRPL44Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:224828547
Cytoband: 2q36.1
HGVS: NM_022915.5(MRPL44):c.723G>C (p.Leu241Phe)
Allele change: Missense_L241F

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.