Variant (rsID / SNP)
rs208753
rs208753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCM1. Location: chromosome 8, position 17,814,915. The table records no clinical significance for this variant.
Reference-table entries
PCM1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 8:17814915
- HGVS
- NM_001352632.2,c.1906A>G,p.Met636Val
- Allele change
- Missense_M636V
Associated conditions / phenotypes
Missense_M597V|Missense_M597V|Missense_M597V|Missense_M597V|Silent|Missense_M636V|Missense_M597V|Missense_M636V|Missense_M597V|Missense_M597V|Missense_M636V|Missense_M597V|Missense_M636V|Missense_M636V|Missense_M597V|Missense_M597V|Missense_M636V|Missense_M636V
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.