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Variant (rsID / SNP)

rs104893871

SGCB

rs104893871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCB. Location: chromosome 4, position 52,895,974. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SGCBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:52895974
Cytoband
4q12
HGVS
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
Allele change
Missense_M100K

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2E

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.