Variant (rsID / SNP)

rs151283330

rs151283330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERMARD. Location: chromosome 6, position 170,169,738. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ERMARDConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:170169738
Cytoband: 6q27
HGVS: NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp)
Allele change: Missense_N388D

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.