Variant (rsID / SNP)

rs372701032

rs372701032 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMCO1. Location: chromosome 1, position 165,721,336. Clinical significance in the table: Pathogenic.

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Reference-table entries

TMCO1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:165721336
Cytoband: 1q24.1
HGVS: NM_019026.6(TMCO1):c.323+3G>C
Allele change: Silent

Associated conditions / phenotypes

Cerebrofaciothoracic dysplasia

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.