Variant (rsID / SNP)

rs113982491

rs113982491 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RHD. Location: chromosome 1, position 25,617,206. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

RHDOther

Clinical significance (as recorded): no interpretation for the single variant
Variant type: single nucleotide variant
Chromosome / position: 1:25617206
Cytoband: 1p36.11
HGVS: NM_016124.6(RHD):c.410C>T (p.Ala137Val)
Allele change: Silent

Associated conditions / phenotypes

Missense_A137V|Missense_A137V|Missense_A137V

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.