Variant (rsID / SNP)

rs199588904

rs199588904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GHSR. Location: chromosome 3, position 172,165,495. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GHSRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:172165495
Cytoband: 3q26.31
HGVS: NM_198407.2(GHSR):c.709A>T (p.Arg237Trp)
Allele change: Missense_R237W

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.