Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs144372453

GLI2

rs144372453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI2. Location: chromosome 2, position 121,748,153. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GLI2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:121748153
Cytoband
2q14.2
HGVS
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)
Allele change
Missense_S1555P

Associated conditions / phenotypes

Holoprosencephaly 9|Holoprosencephaly 9|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Public references

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