Variant (rsID / SNP)

rs121918118

rs121918118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GHRHR. Location: chromosome 7, position 31,010,798. Clinical significance in the table: Pathogenic.

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Reference-table entries

GHRHRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:31010798
Cytoband: 7p14.3
HGVS: NM_000823.4(GHRHR):c.431T>A (p.Leu144His)
Allele change: Missense_L144H

Associated conditions / phenotypes

Isolated growth hormone deficiency, type 4

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.