Variant (rsID / SNP)

rs740336

rs740336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GHRHR. Location: chromosome 7, position 31,011,677. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GHRHRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:31011677
Cytoband: 7p14.3
HGVS: NM_000823.4(GHRHR):c.564C>T (p.His188=)
Allele change: Synonymous_H188H

Associated conditions / phenotypes

Idiopathic growth hormone deficiency|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.