Variant (rsID / SNP)

rs2229944

rs2229944 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRB2. Location: chromosome 5, position 160,721,319. Clinical significance in the table: Benign.

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Reference-table entries

GABRB2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:160721319
Cytoband: 5q34
HGVS: NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=)
Allele change: Synonymous_A436A

Associated conditions / phenotypes

Intellectual disability

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.