Variant (rsID / SNP)

rs200913720

rs200913720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI3. Location: chromosome 7, position 42,012,196. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GLI3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:42012196
Cytoband: 7p14.1
HGVS: NM_000168.6(GLI3):c.1843A>T (p.Thr615Ser)
Allele change: Missense_T615S

Associated conditions / phenotypes

Polydactyly|Greig cephalopolysyndactyly syndrome|Pallister-Hall syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.