Variant (rsID / SNP)

rs201118996

rs201118996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALNT14. Location: chromosome 2, position 31,147,092. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GALNT14Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:31147092
Cytoband: 2p23.1
HGVS: NM_024572.4(GALNT14):c.1273C>T (p.Arg425Ter)
Allele change: Nonsense_R430X

Associated conditions / phenotypes

Non-immune hydrops fetalis

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.