Variant (rsID / SNP)

rs119455950

rs119455950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COX4I2. Location: chromosome 20, position 30,232,603. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COX4I2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:30232603
Cytoband: 20q11.21
HGVS: NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys)
Allele change: Missense_E138K

Associated conditions / phenotypes

Pancreatic insufficiency-anemia-hyperostosis syndrome

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.