Variant (rsID / SNP)

rs200888898

rs200888898 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PITX1. Location: chromosome 5, position 134,367,106. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PITX1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:134367106
Cytoband: 5q31.1
HGVS: NM_002653.5(PITX1):c.262A>C (p.Lys88Gln)
Allele change: Missense_K88Q

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.