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Variant (rsID / SNP)

rs148939095

CASP10

rs148939095 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASP10. Location: chromosome 2, position 202,082,397. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CASP10Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:202082397
Cytoband
2q33.1
HGVS
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu)
Allele change
Missense_P434L

Associated conditions / phenotypes

Autoimmune lymphoproliferative syndrome type 2A

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.