Variant (rsID / SNP)

rs191582628

rs191582628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR1C. Location: chromosome 6, position 43,488,700. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

POLR1CPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:43488700
Cytoband: 6p21.1
HGVS: NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)
Allele change: Missense_R279Q

Associated conditions / phenotypes

Treacher Collins syndrome 3|Hypomyelinating leukodystrophy 11|POLR1C-Related Disorders

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.