Variant (rsID / SNP)

rs202180702

rs202180702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPRC. Location: chromosome 1, position 198,668,741. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PTPRCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:198668741
Cytoband: 1q31.3
HGVS: NM_002838.5(PTPRC):c.347A>C (p.Gln116Pro)
Allele change: Silent

Associated conditions / phenotypes

Immunodeficiency 104

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.