Variant (rsID / SNP)

rs144830740

rs144830740 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXH1. Location: chromosome 8, position 145,700,381. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FOXH1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:145700381
Cytoband: 8q24.3
HGVS: NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr)
Allele change: Missense_S113T

Associated conditions / phenotypes

Holoprosencephaly sequence

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.