Variant (rsID / SNP)

rs3796360

rs3796360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARHGAP31. Location: chromosome 3, position 119,134,872. Clinical significance in the table: Benign.

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Reference-table entries

ARHGAP31Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:119134872
Cytoband: 3q13.33
HGVS: NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met)
Allele change: Missense_V1366M

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.