Variant (rsID / SNP)

rs190007694

rs190007694 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRPPRC. Location: chromosome 2, position 44,173,248. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

LRPPRCLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:44173248
Cytoband: 2p21
HGVS: NM_133259.4(LRPPRC):c.2210+4A>C
Allele change: Silent

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.