Variant (rsID / SNP)
rs62625033
rs62625033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIFBP. Location: chromosome 10, position 70,760,271. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
KIFBPBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:70760271
- Cytoband
- 10q22.1
- HGVS
- NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)
- Allele change
- Missense_M173T
Associated conditions / phenotypes
Goldberg-Shprintzen megacolon syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.