Variant (rsID / SNP)

rs200233879

rs200233879 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARHGAP31. Location: chromosome 3, position 119,121,029. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ARHGAP31Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:119121029
Cytoband: 3q13.33
HGVS: NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu)
Allele change: Missense_P477L

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.