Variant (rsID / SNP)

rs141202530

rs141202530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE4. Location: chromosome 19, position 36,494,352. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SYNE4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:36494352
Cytoband: 19q13.12
HGVS: NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met)
Allele change: Missense_V368M

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.