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Variant (rsID / SNP)

rs149711133

SEMA4A

rs149711133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEMA4A. Location: chromosome 1, position 156,124,453. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SEMA4AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:156124453
Cytoband
1q22
HGVS
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=)
Allele change
Synonymous_T28T

Associated conditions / phenotypes

Retinitis Pigmentosa, Recessive|Cone-rod dystrophy 10|Retinitis pigmentosa

Public references

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