Variant (rsID / SNP)

rs121909506

rs121909506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRND. Location: chromosome 2, position 233,393,011. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHRNDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:233393011
Cytoband: 2q37.1
HGVS: NM_000751.3(CHRND):c.283T>C (p.Phe95Leu)
Allele change: Missense_F80L

Associated conditions / phenotypes

Lethal multiple pterygium syndrome

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.