Variant (rsID / SNP)

rs56025238

rs56025238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERMAP. Location: chromosome 1, position 43,296,522. Clinical significance in the table: Likely benign.

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Reference-table entries

ERMAPLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:43296522
Cytoband: 1p34.2
HGVS: NM_001017922.2(ERMAP):c.169G>A (p.Gly57Arg)
Allele change: Missense_G57R

Associated conditions / phenotypes

SCIANNA BLOOD GROUP SYSTEM, SC:-1,2

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.