Variant (rsID / SNP)

rs56180593

rs56180593 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCOF1. Location: chromosome 5, position 149,740,732. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TCOF1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:149740732
Cytoband: 5q32
HGVS: NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val)
Allele change: Missense_A41V

Associated conditions / phenotypes

Treacher Collins syndrome 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.