Variant (rsID / SNP)

rs56168869

rs56168869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPECC1L. Location: chromosome 22, position 24,717,510. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPECC1LBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:24717510
Cytoband: 22q11.23
HGVS: NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe)
Allele change: Missense_L188F

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.