Variant (rsID / SNP)

rs149364215

rs149364215 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC4. Location: chromosome 16, position 14,041,518. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ERCC4Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:14041518
Cytoband: 16p13.12
HGVS: NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)
Allele change: Missense_R689S

Associated conditions / phenotypes

Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F|Cockayne syndrome|Fanconi anemia complementation group Q

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.