Variant (rsID / SNP)

rs121917883

rs121917883 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GHSR. Location: chromosome 3, position 172,165,593. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GHSRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:172165593
Cytoband: 3q26.31
HGVS: NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)
Allele change: Missense_A204E

Associated conditions / phenotypes

Short stature due to growth hormone secretagogue receptor deficiency|Inborn genetic diseases

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.