Variant (rsID / SNP)

rs17102531

rs17102531 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIP1. Location: chromosome 12, position 66,856,782. Clinical significance in the table: Benign.

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Reference-table entries

GRIP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:66856782
Cytoband: 12q14.3
HGVS: NM_001366722.1(GRIP1):c.964G>A (p.Ala322Thr)
Allele change: Missense_A322T

Associated conditions / phenotypes

Fraser syndrome 3

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.