Variant (rsID / SNP)

rs137853113

rs137853113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL7. Location: chromosome 7, position 23,180,403. Clinical significance in the table: Pathogenic.

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Reference-table entries

KLHL7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:23180403
Cytoband: 7p15.3
HGVS: NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)
Allele change: Missense_A153V

Associated conditions / phenotypes

Retinitis pigmentosa 42|Retinitis pigmentosa|Retinal dystrophy

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.