Variant (rsID / SNP)

rs41270076

rs41270076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TULP1. Location: chromosome 6, position 35,467,891. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TULP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:35467891
Cytoband: 6p21.31
HGVS: NM_003322.6(TULP1):c.1362G>A (p.Thr454=)
Allele change: Synonymous_T401T

Associated conditions / phenotypes

Retinitis pigmentosa|Leber congenital amaurosis 15

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.