Variant (rsID / SNP)

rs34723289

rs34723289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNAT2. Location: chromosome 1, position 110,146,108. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GNAT2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:110146108
Cytoband: 1p13.3
HGVS: NM_001377295.2(GNAT2):c.933T>C (p.Asn311=)
Allele change: Synonymous_N311N

Associated conditions / phenotypes

Achromatopsia 4

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.