Variant (rsID / SNP)

rs192919234

rs192919234 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBGCP6. Location: chromosome 22, position 50,678,643. Clinical significance in the table: Pathogenic.

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Reference-table entries

TUBGCP6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:50678643
Cytoband: 22q13.33
HGVS: NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter)
Allele change: Nonsense_R299X

Associated conditions / phenotypes

Microcephaly and chorioretinopathy with or without intellectual disability

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.