Variant (rsID / SNP)

rs121909501

rs121909501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TDGF1. Location: chromosome 3, position 46,621,476. Clinical significance in the table: Pathogenic.

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Reference-table entries

TDGF1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:46621476
Cytoband: 3p21.31
HGVS: NM_003212.4(TDGF1):c.374C>T (p.Pro125Leu)
Allele change: Missense_P109L

Associated conditions / phenotypes

Forebrain defects

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.