Variant (rsID / SNP)

rs2071239

rs2071239 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCOF1. Location: chromosome 5, position 149,755,421. Clinical significance in the table: Benign.

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Reference-table entries

TCOF1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:149755421
Cytoband: 5q32
HGVS: NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=)
Allele change: Synonymous_S537S

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.