Variant (rsID / SNP)

rs138632121

rs138632121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to THOC6, HCFC1R1. Location: chromosome 16, position 3,076,141. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

THOC6Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:3076141
Cytoband: 16p13.3
HGVS: NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)
Allele change: Missense_W76R

Associated conditions / phenotypes

Inborn genetic diseases|THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

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.