Variant (rsID / SNP)

rs149471454

rs149471454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARFGEF2. Location: chromosome 20, position 47,558,420. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ARFGEF2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:47558420
Cytoband: 20q13.13
HGVS: NM_006420.3(ARFGEF2):c.172C>T (p.Pro58Ser)
Allele change: Missense_P58S

Associated conditions / phenotypes

See cases

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.