Variant (rsID / SNP)

rs6183

rs6183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GHR. Location: chromosome 5, position 42,719,092. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GHRBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:42719092
Cytoband: 5p12
HGVS: NM_000163.5(GHR):c.1483C>A (p.Pro495Thr)
Allele change: Missense_P495T

Associated conditions / phenotypes

Laron-type isolated somatotropin defect

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.