Variant (rsID / SNP)

rs199652160

rs199652160 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLTCL1. Location: chromosome 22, position 19,222,211. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CLTCL1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:19222211
Cytoband: 22q11.21
HGVS: NM_007098.4(CLTCL1):c.988G>A (p.Glu330Lys)
Allele change: Missense_E330K

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.