Variant (rsID / SNP)

rs2228078

rs2228078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GHRHR. Location: chromosome 7, position 31,018,852. Clinical significance in the table: Benign.

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Reference-table entries

GHRHRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:31018852
Cytoband: 7p14.3
HGVS: NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr)
Allele change: Missense_M422T

Associated conditions / phenotypes

Isolated growth hormone deficiency type IB

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.