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Variant (rsID / SNP)

rs149941106

LHFPL5

rs149941106 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LHFPL5. Location: chromosome 6, position 35,773,490. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LHFPL5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:35773490
Cytoband
6p21.31
HGVS
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr)
Allele change
Missense_H15Y

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 67

Public references

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