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Variant (rsID / SNP)

rs200092283

TUBGCP4TP53BP1

rs200092283 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBGCP4, TP53BP1. Location: chromosome 15, position 43,695,895. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TUBGCP4Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:43695895
Cytoband
15q15.3
HGVS
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)
Allele change
Synonymous_L582L

Associated conditions / phenotypes

Microcephaly and chorioretinopathy 3|Autosomal recessive chorioretinopathy-microcephaly syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.