Variant (rsID / SNP)

rs199582514

rs199582514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBGCP6. Location: chromosome 22, position 50,664,312. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TUBGCP6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:50664312
Cytoband: 22q13.33
HGVS: NM_020461.4(TUBGCP6):c.1894G>C (p.Glu632Gln)
Allele change: Missense_E632Q

Associated conditions / phenotypes

Inborn genetic diseases|Microcephaly and chorioretinopathy 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.