Variant (rsID / SNP)

rs140501920

rs140501920 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GHR. Location: chromosome 5, position 42,689,050. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GHRConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:42689050
Cytoband: 5p12
HGVS: NM_000163.5(GHR):c.195A>G (p.Ser65=)
Allele change: Synonymous_S65S

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.