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Variant (rsID / SNP)

rs139991238

PRKCSH

rs139991238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKCSH. Location: chromosome 19, position 11,552,120. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRKCSHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:11552120
Cytoband
19p13.2
HGVS
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His)
Allele change
Missense_R139H

Associated conditions / phenotypes

Polycystic liver disease 1

Public references

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