Variant (rsID / SNP)

rs121434561

rs121434561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG1. Location: chromosome 19, position 48,624,501. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LIG1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:48624501
Cytoband: 19q13.33
HGVS: NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp)
Allele change: Missense_R740W

Associated conditions / phenotypes

Immunodeficiency 96

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.