Variant (rsID / SNP)
rs7312857
rs7312857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BIN2. Location: chromosome 12, position 51,707,626. The table records no clinical significance for this variant.
Reference-table entries
BIN2Not classified
- Variant type
- missense_variant
- Chromosome / position
- 12:51707626
- HGVS
- NM_016293.4,c.143G>A,p.Ser48Asn
- Allele change
- Missense_S48N
Associated conditions / phenotypes
Missense_S48N|Missense_S48N
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.