Variant (rsID / SNP)

rs11547498

rs11547498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RHBDD2. Location: chromosome 7, position 75,511,222. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RHBDD2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:75511222
Cytoband: 7q11.23
HGVS: NM_001040456.3(RHBDD2):c.254G>A (p.Arg85His)
Allele change: Missense_R85H

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.