Variant (rsID / SNP)

rs143697995

rs143697995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRPL44. Location: chromosome 2, position 224,824,538. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MRPL44Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:224824538
Cytoband: 2q36.1
HGVS: NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)
Allele change: Missense_L156R

Associated conditions / phenotypes

Infantile hypertrophic cardiomyopathy due to MRPL44 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.