Variant (rsID / SNP)

rs587777008

rs587777008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERF. Location: chromosome 19, position 42,754,484. 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: 19:42754484
Cytoband: 19q13.2
HGVS: NM_006494.4(ERF):c.256C>T (p.Arg86Cys)
Allele change: Missense_R11C

Associated conditions / phenotypes

Craniosynostosis 4|TWIST1-related craniosynostosis

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.