Variant (rsID / SNP)

rs61739916

rs61739916 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COMP. Location: chromosome 19, position 18,897,440. Clinical significance in the table: Benign.

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Reference-table entries

COMPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:18897440
Cytoband: 19p13.11
HGVS: NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)
Allele change: Missense_N386D

Associated conditions / phenotypes

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|Multiple epiphyseal dysplasia type 1|Connective tissue disorder

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.