Variant (rsID / SNP)

rs61744410

rs61744410 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARHGAP31. Location: chromosome 3, position 119,121,217. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ARHGAP31Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:119121217
Cytoband: 3q13.33
HGVS: NM_020754.4(ARHGAP31):c.1618A>G (p.Lys540Glu)
Allele change: Missense_K540E

Associated conditions / phenotypes

Adams-Oliver syndrome 1

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.