Variant (rsID / SNP)

rs587779351

rs587779351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XRCC4. Location: chromosome 5, position 82,400,865. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

XRCC4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:82400865
Cytoband: 5q14.2
HGVS: NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)
Allele change: Missense_W43R

Associated conditions / phenotypes

Ateleiotic dwarfism|Short stature, microcephaly, and endocrine dysfunction

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.