Variant (rsID / SNP)

rs386834014

rs386834014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,658,051. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

POMGNT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:46658051
Cytoband: 1p34.1
HGVS: NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)
Allele change: Missense_G448R

Associated conditions / phenotypes

Muscle eye brain disease|Retinitis pigmentosa 76

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.