Variant (rsID / SNP)

rs886041001

rs886041001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERF. Location: chromosome 19, position 42,754,086. Clinical significance in the table: Pathogenic.

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Reference-table entries

ERFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:42754086
Cytoband: 19q13.2
HGVS: NM_006494.4(ERF):c.266A>G (p.Tyr89Cys)
Allele change: Missense_Y14C

Associated conditions / phenotypes

Chitayat syndrome

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.