Variant (rsID / SNP)

rs2736831

rs2736831 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXTL1. Location: chromosome 1, position 26,357,656. The table records no clinical significance for this variant.

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Reference-table entries

EXTL1Not classified

Variant type: missense_variant
Chromosome / position: 1:26357656
HGVS: NM_004455.3,c.1135C>A,p.His379Asn
Allele change: Missense_H379N

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.