Variant (rsID / SNP)

rs41265401

rs41265401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERMARD. Location: chromosome 6, position 170,176,146. Clinical significance in the table: Benign.

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Reference-table entries

ERMARDBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:170176146
Cytoband: 6q27
HGVS: NM_018341.3(ERMARD):c.1505G>A (p.Arg502His)
Allele change: Missense_R502H

Associated conditions / phenotypes

Periventricular nodular heterotopia 6

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.