Variant (rsID / SNP)

rs145115262

rs145115262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIP1. Location: chromosome 12, position 66,773,075. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GRIP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:66773075
Cytoband: 12q14.3
HGVS: NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln)
Allele change: Missense_R817Q

Associated conditions / phenotypes

Fraser syndrome 3|Intellectual disability

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.