Variant (rsID / SNP)

rs114234514

rs114234514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,678,261. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ERCC6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:50678261
Cytoband: 10q11.23
HGVS: NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn)
Allele change: Missense_D1249N

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.