Variant (rsID / SNP)

rs31244

rs31244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SV2C. Location: chromosome 5, position 75,594,743. The table records no clinical significance for this variant.

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Reference-table entries

SV2CNot classified

Variant type: missense_variant
Chromosome / position: 5:75594743
HGVS: NM_014979.4,c.1627G>A,p.Asp543Asn
Allele change: Missense_D543N

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.