Variant (rsID / SNP)
rs377767412
rs377767412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,609,995. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43609995
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1947G>A (p.Ser649_Val650=)
- Allele change
- Synonymous_S649S
Associated conditions / phenotypes
6 conditions|Multiple endocrine neoplasia, type 2|Hirschsprung disease, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.