Variant (rsID / SNP)
rs151019928
rs151019928 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GHRHR. Location: chromosome 7, position 31,013,743. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GHRHRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:31013743
- Cytoband
- 7p14.3
- HGVS
- NM_000823.4(GHRHR):c.741C>T (p.Leu247=)
- Allele change
- Synonymous_L247L
Associated conditions / phenotypes
Isolated growth hormone deficiency type IB
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.