Variant (rsID / SNP)

rs2972588

rs2972588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBD3L1. Location: chromosome 19, position 8,953,922. The table records no clinical significance for this variant.

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Reference-table entries

MBD3L1Not classified

Variant type: missense_variant
Chromosome / position: 19:8953922
HGVS: NM_001393532.1,c.568C>T,p.Arg190Cys
Allele change: Missense_R190C

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.