Variant (rsID / SNP)

rs11542187

rs11542187 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TIMM44. Location: chromosome 19, position 7,992,976. Clinical significance in the table: Benign.

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Reference-table entries

TIMM44Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:7992976
Cytoband: 19p13.2
HGVS: NM_006351.4(TIMM44):c.1114A>G (p.Ile372Val)
Allele change: Missense_I372V

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.