Variant (rsID / SNP)
rs7978894
rs7978894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFAP54. Location: chromosome 12, position 97,136,218. The table records no clinical significance for this variant.
Reference-table entries
CFAP54Not classified
- Variant type
- missense_variant&splice_region_variant
- Chromosome / position
- 12:97136218
- HGVS
- NM_001367885.1,c.7268T>C,p.Val2423Ala
- Allele change
- Missense_V2358A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.