Variant (rsID / SNP)

rs200397968

rs200397968 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARHGAP31. Location: chromosome 3, position 119,099,744. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ARHGAP31Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:119099744
Cytoband: 3q13.33
HGVS: NM_020754.4(ARHGAP31):c.349-7T>G
Allele change: Silent

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.