Variant (rsID / SNP)

rs80358231

rs80358231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRAP. Location: chromosome 21, position 33,671,285. Clinical significance in the table: Pathogenic.

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Reference-table entries

MRAPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:33671285
Cytoband: 21q22.11
HGVS: NM_001379228.1(MRAP):c.3G>A (p.Met1Ile)
Allele change: Missense_M1I

Associated conditions / phenotypes

Glucocorticoid deficiency 2|Glucocorticoid deficiency 1

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.