Variant (rsID / SNP)

rs190366603

rs190366603 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLTCL1. Location: chromosome 22, position 19,178,854. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CLTCL1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:19178854
Cytoband: 22q11.21
HGVS: NM_007098.4(CLTCL1):c.4285C>T (p.Arg1429Trp)
Allele change: Missense_R1429W

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.