Variant (rsID / SNP)

rs387906800

rs387906800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K2. Location: chromosome 19, position 4,110,562. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MAP2K2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:4110562
Cytoband: 19p13.3
HGVS: NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)
Allele change: Missense_G132D

Associated conditions / phenotypes

Cardiofaciocutaneous syndrome 4|RASopathy

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.