Variant (rsID / SNP)

rs151263636

rs151263636 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GH1. Location: chromosome 17, position 61,995,761. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GH1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:61995761
Cytoband: 17q23.3
HGVS: NM_000515.5(GH1):c.116C>T (p.Ala39Val)
Allele change: Missense_A39V

Associated conditions / phenotypes

Decreased response to growth hormone stimulation test

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.