Variant (rsID / SNP)

rs2973571

rs2973571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARHGEF28. Location: chromosome 5, position 73,142,296. Clinical significance in the table: Benign.

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Reference-table entries

ARHGEF28Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:73142296
Cytoband: 5q13.2
HGVS: NM_001177693.2(ARHGEF28):c.1631C>T (p.Ser544Leu)
Allele change: Missense_S544L

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.