Variant (rsID / SNP)

rs114970039

rs114970039 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPRC. Location: chromosome 1, position 198,723,433. 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: 1:198723433
Cytoband: 1q32.1
HGVS: NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser)
Allele change: Missense_L1021S

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.