Variant (rsID / SNP)

rs370167241

rs370167241 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ECEL1. Location: chromosome 2, position 233,349,573. Clinical significance in the table: Pathogenic.

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Reference-table entries

ECEL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:233349573
Cytoband: 2q37.1
HGVS: NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter)
Allele change: Nonsense_R333X

Associated conditions / phenotypes

Distal arthrogryposis type 5D|See cases

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.