Variant (rsID / SNP)

rs41265017

rs41265017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEMA4A. Location: chromosome 1, position 156,146,640. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SEMA4ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:156146640
Cytoband: 1q22
HGVS: NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)
Allele change: Missense_R713Q

Associated conditions / phenotypes

Retinitis pigmentosa 35|Cone-rod dystrophy 10|Retinitis Pigmentosa, Recessive|Retinitis pigmentosa

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.